| geneid | 89 |
|---|---|
| ensemblid | ENSG00000248746.6 |
| hgncid | 165 |
| symbol | ACTN3 |
| name | actinin alpha 3 |
| refseq_nuc | NM_001104.4 |
| refseq_prot | NP_001095.2 |
| ensembl_nuc | ENST00000513398.2 |
| ensembl_prot | ENSP00000426797.1 |
| mane_status | MANE Select |
| chr | chr11 |
| start | 66546903 |
| end | 66563334 |
| strand | + |
| ver | v1.2 |
| region | chr11:66546903-66563334 |
| region5000 | chr11:66541903-66568334 |
| regionname0 | ACTN3_chr11_66546903_66563334 |
| regionname5000 | ACTN3_chr11_66541903_66568334 |
| chr:pos | ref | alt | af | annotation | impact | samples | AHAPIDS | ACHAPIDS | ACTHAPIDS | ACTGHAPIDS | ac | an | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr11:66560202
|
G | A | 0.6150 | missense_variant | MODERATE | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(243): Show |
a0001a0003a0004others(13): Show | a0001c0001a0003c0003a0003c0004others(15): Show | a0001c0001t0001a0001c0001t0004a0003c0003t0001others(17): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(125): Show | 246 | 400 | 0 | ACTN3 | ENSG00000248746.6 | transcript | ENST00000513398.2 | protein_coding | 14/21 | c.1568G>A | p.Arg523Gln | 1603/2882 | 1568/2706 | 523/901 | ||
|
chr11:66561248
|
T | C | 0.6200 | missense_variant | MODERATE | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(245): Show |
a0001a0002a0003others(14): Show | a0001c0001a0002c0024a0003c0003others(16): Show | a0001c0001t0001a0001c0001t0004a0002c0024t0001others(18): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(127): Show | 248 | 400 | 0 | ACTN3 | ENSG00000248746.6 | transcript | ENST00000513398.2 | protein_coding | 16/21 | c.1882T>C | p.Cys628Arg | 1917/2882 | 1882/2706 | 628/901 | ||
|
chr11:66562261
|
A | G | 0.6125 | missense_variant | MODERATE | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(242): Show |
a0001a0003a0004others(12): Show | a0001c0001a0003c0003a0003c0004others(14): Show | a0001c0001t0001a0001c0001t0004a0003c0003t0001others(16): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(124): Show | 245 | 400 | 0 | ACTN3 | ENSG00000248746.6 | transcript | ENST00000513398.2 | protein_coding | 19/21 | c.2327A>G | p.Gln776Arg | 2362/2882 | 2327/2706 | 776/901 |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
ahapid | alen | total | AFR | AMR | EAS | EUR | SAS | aseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ACTN3 | 0/1 | a0001 | 901 | 156 | 50 | 21 | 65 | 9 | 10 | subcellular location copy fasta | chr11 | 66541903 | 66568334 |
Click to load Haplotype QTL data...
| pos | S. Strand |
E# Exon Number |
max | median | min | diff | type | haplotypeid | max_hap_list | min_hap_list | symbol | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 66547084 | + | 1 | -0.7970 | -0.7825 | -0.7701 | 0.0268 | acceptor | a0001 | HG00280.hp2 HG01099.hp1 HG03710.hp2 |
HG02818.hp1 | ACTN3 | chr11 | 66541903 | 66568334 |
| 66551239 | + | 2 | 0.9929 | 0.9892 | 0.9883 | 0.0046 | donor | a0001 | HG01243.hp2 HG03225.hp2 |
NA18991.hp2 | ACTN3 | chr11 | 66541903 | 66568334 |
| 66551353 | + | 2 | -0.9895 | -0.9888 | -0.9879 | 0.0016 | acceptor | a0001 | HG03710.hp2 | HG02056.hp1 | ACTN3 | chr11 | 66541903 | 66568334 |
| 66551528 | + | 3 | 0.9985 | 0.9984 | 0.9972 | 0.0013 | donor | a0001 | HG03710.hp2 | HG02056.hp1 | ACTN3 | chr11 | 66541903 | 66568334 |
| 66551647 | + | 3 | -0.9978 | -0.9976 | -0.9959 | 0.0019 | acceptor | a0001 | HG01361.hp1 | HG02602.hp2 HG02735.hp2 |
ACTN3 | chr11 | 66541903 | 66568334 |
| 66554045 | + | 4 | 0.9923 | 0.9913 | 0.9900 | 0.0023 | donor | a0001 | HG03492.hp2 NA19009.hp2 |
HG02922.hp1 | ACTN3 | chr11 | 66541903 | 66568334 |
| 66554131 | + | 4 | -0.9996 | -0.9995 | -0.9994 | 0.0002 | acceptor | a0001 | HG01243.hp1 HG02109.hp2 HG02258.hp1 HG02280.hp1 HG02630.hp1 others(2): Show |
HG06807.hp1 | ACTN3 | chr11 | 66541903 | 66568334 |
| 66554536 | + | 5 | 0.9952 | 0.9948 | 0.9929 | 0.0023 | donor | a0001 | NA18969.hp2 | NA18995.hp2 NA19003.hp1 |
ACTN3 | chr11 | 66541903 | 66568334 |
| 66554623 | + | 5 | -0.9839 | -0.9767 | -0.9744 | 0.0095 | acceptor | a0001 | HG01884.hp1 | HG03579.hp2 HG03669.hp1 NA19060.hp1 |
ACTN3 | chr11 | 66541903 | 66568334 |
| 66555130 | + | 6 | 0.9993 | 0.9992 | 0.9991 | 0.0001 | donor | a0001 | HG01891.hp1 HG03579.hp2 HG03669.hp1 NA18995.hp2 NA19003.hp1 others(4): Show |
HG01884.hp1 HG02602.hp2 HG02735.hp2 NA19082.hp2 |
ACTN3 | chr11 | 66541903 | 66568334 |
| 66555208 | + | 6 | -0.9968 | -0.9964 | -0.9963 | 0.0005 | acceptor | a0001 | HG02056.hp1 NA19030.hp2 |
NA18990.hp2 | ACTN3 | chr11 | 66541903 | 66568334 |
| 66555286 | + | 7 | 0.9993 | 0.9993 | 0.9993 | 0.0000 | donor | a0001 | HG02080.hp1 HG03492.hp2 NA19009.hp2 |
HG02602.hp2 HG02735.hp2 NA19004.hp1 |
ACTN3 | chr11 | 66541903 | 66568334 |
| 66555367 | + | 7 | -0.9995 | -0.9995 | -0.9995 | 0.0000 | acceptor | a0001 | HG01074.hp1 HG01884.hp1 HG01891.hp1 HG02056.hp1 HG02280.hp2 others(18): Show |
NA18990.hp2 | ACTN3 | chr11 | 66541903 | 66568334 |
| 66556145 | + | 8 | 0.9977 | 0.9976 | 0.9975 | 0.0002 | donor | a0001 | HG02145.hp1 HG02922.hp2 |
HG02132.hp1 | ACTN3 | chr11 | 66541903 | 66568334 |
| 66556230 | + | 8 | -0.9979 | -0.9979 | -0.9978 | 0.0001 | acceptor | a0001 | HG01884.hp1 | HG02132.hp1 HG02145.hp1 HG02922.hp2 |
ACTN3 | chr11 | 66541903 | 66568334 |
| 66557133 | + | 9 | 0.9995 | 0.9994 | 0.9994 | 0.0000 | donor | a0001 | NA19082.hp2 | HG02080.hp1 | ACTN3 | chr11 | 66541903 | 66568334 |
| 66557225 | + | 9 | -0.9992 | -0.9992 | -0.9991 | 0.0001 | acceptor | a0001 | NA19082.hp2 | HG02080.hp1 | ACTN3 | chr11 | 66541903 | 66568334 |
| 66557699 | + | 10 | 0.9851 | 0.9847 | 0.9840 | 0.0011 | donor | a0001 | HG02080.hp1 | HG02145.hp1 HG02922.hp2 |
ACTN3 | chr11 | 66541903 | 66568334 |
| 66557929 | + | 10 | -0.9858 | -0.9847 | -0.9844 | 0.0013 | acceptor | a0001 | HG01884.hp1 | HG02080.hp1 | ACTN3 | chr11 | 66541903 | 66568334 |
| 66558027 | + | 11 | 0.9952 | 0.9950 | 0.9949 | 0.0002 | donor | a0001 | HG01243.hp2 HG01884.hp1 HG03225.hp2 |
HG03139.hp2 | ACTN3 | chr11 | 66541903 | 66568334 |
| 66558174 | + | 11 | -0.9982 | -0.9980 | -0.9979 | 0.0003 | acceptor | a0001 | NA19082.hp2 | HG02080.hp1 | ACTN3 | chr11 | 66541903 | 66568334 |
| 66559236 | + | 12 | 0.9785 | 0.9776 | 0.9709 | 0.0077 | donor | a0001 | NA19082.hp2 | HG01243.hp1 | ACTN3 | chr11 | 66541903 | 66568334 |
| 66559386 | + | 12 | -0.9952 | -0.9950 | -0.9948 | 0.0005 | acceptor | a0001 | NA18981.hp1 | HG01243.hp1 | ACTN3 | chr11 | 66541903 | 66568334 |
| 66559968 | + | 13 | 0.9917 | 0.9916 | 0.9908 | 0.0009 | donor | a0001 | NA19082.hp2 | HG01884.hp1 HG03225.hp2 |
ACTN3 | chr11 | 66541903 | 66568334 |
| 66560076 | + | 13 | -0.9867 | -0.9864 | -0.9858 | 0.0009 | acceptor | a0001 | NA18981.hp1 | HG01243.hp2 HG01884.hp1 HG03225.hp2 |
ACTN3 | chr11 | 66541903 | 66568334 |
| 66560171 | + | 14 | 0.9984 | 0.9984 | 0.9981 | 0.0003 | donor | a0001 | HG03139.hp2 NA18981.hp1 |
HG01243.hp2 HG01884.hp1 HG03225.hp2 |
ACTN3 | chr11 | 66541903 | 66568334 |
| 66560311 | + | 14 | -0.9996 | -0.9995 | -0.9995 | 0.0001 | acceptor | a0001 | NA18747.hp2 | HG01243.hp2 HG01884.hp1 HG03225.hp2 |
ACTN3 | chr11 | 66541903 | 66568334 |
| 66560573 | + | 15 | 0.9983 | 0.9982 | 0.9966 | 0.0017 | donor | a0001 | NA19082.hp1 | HG01884.hp1 HG03225.hp2 |
ACTN3 | chr11 | 66541903 | 66568334 |
| 66560755 | + | 15 | -0.9961 | -0.9961 | -0.9959 | 0.0003 | acceptor | a0001 | HG00099.hp2 HG00280.hp1 HG00438.hp2 HG00597.hp2 HG00621.hp1 others(104): Show |
NA19082.hp1 | ACTN3 | chr11 | 66541903 | 66568334 |
| 66561227 | + | 16 | 0.9966 | 0.9963 | 0.9960 | 0.0006 | donor | a0001 | HG01884.hp1 HG03225.hp2 |
NA19082.hp1 | ACTN3 | chr11 | 66541903 | 66568334 |
| 66561361 | + | 16 | -0.9992 | -0.9989 | -0.9979 | 0.0013 | acceptor | a0001 | HG00280.hp2 HG00323.hp2 HG00609.hp1 HG00738.hp2 HG00741.hp1 others(33): Show |
NA19082.hp1 | ACTN3 | chr11 | 66541903 | 66568334 |
| 66561458 | + | 17 | 0.9885 | 0.9845 | 0.9130 | 0.0755 | donor | a0001 | HG01243.hp2 | NA19082.hp1 | ACTN3 | chr11 | 66541903 | 66568334 |
| 66561637 | + | 17 | -0.9919 | -0.9882 | -0.9800 | 0.0119 | acceptor | a0001 | HG01243.hp2 | NA19082.hp1 | ACTN3 | chr11 | 66541903 | 66568334 |
| 66562022 | + | 18 | 0.9850 | 0.9842 | 0.9841 | 0.0009 | donor | a0001 | HG01884.hp1 HG03225.hp2 |
HG02056.hp1 | ACTN3 | chr11 | 66541903 | 66568334 |
| 66562168 | + | 18 | -0.9782 | -0.9778 | -0.9769 | 0.0013 | acceptor | a0001 | HG01243.hp2 | HG02280.hp2 HG03041.hp1 HG03209.hp1 |
ACTN3 | chr11 | 66541903 | 66568334 |
| 66562257 | + | 19 | 0.9913 | 0.9902 | 0.9897 | 0.0016 | donor | a0001 | HG01243.hp2 | NA19082.hp1 | ACTN3 | chr11 | 66541903 | 66568334 |
| 66562322 | + | 19 | -0.9955 | -0.9954 | -0.9946 | 0.0009 | acceptor | a0001 | HG01243.hp2 | HG02280.hp2 HG03041.hp1 HG03209.hp1 |
ACTN3 | chr11 | 66541903 | 66568334 |
| 66562796 | + | 20 | 0.9990 | 0.9990 | 0.9989 | 0.0001 | donor | a0001 | HG01243.hp2 | HG02280.hp2 HG03041.hp1 HG03209.hp1 |
ACTN3 | chr11 | 66541903 | 66568334 |
| 66562954 | + | 20 | -0.9999 | -0.9999 | -0.9999 | 0.0000 | acceptor | a0001 | HG00438.hp2 | HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00597.hp2 others(150): Show |
ACTN3 | chr11 | 66541903 | 66568334 |
| 66563035 | + | 21 | 0.9964 | 0.9963 | 0.9962 | 0.0002 | donor | a0001 | HG00438.hp2 HG02572.hp1 |
HG00280.hp2 HG00323.hp2 HG00609.hp1 HG00738.hp2 HG00741.hp1 others(32): Show |
ACTN3 | chr11 | 66541903 | 66568334 |
| pos | annotationhgvs_chgvs_p | clinvarid | clnsig | geneinfo | mc | clndisdb | strand strand
|
ahapid ahapid_count
|
chapid chapid count
|
thapid thapid_count
|
ghapid ghapid_count
|
AHAPIDS ahapids
|
ACHAPIDS achapids
|
ACTHAPIDS acthapids
|
ACTGHAPIDS actghapids
|
haplotypeids haplotypeids
|
impact | chr | ref | alt | external |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 66561248:splice 66561248:variant goto | c.1882T>Cp.Cys628Arg | 3059776 | Benign | ACTN3:89 | SO:0001583 missense_variant |
. | + | 17 | 19 | 21 | 130 | a0001a0002a0003a0004a0005others(12): Show | a0001c0001a0002c0024a0003c0003a0003c0004a0003c0007others(14): Show | a0001c0001t0001a0001c0001t0004a0002c0024t0001a0003c0003t0001a0003c0003t0002others(16): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0009others(125): Show | HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 others(243): Show |
MODERATE | chr11 | T | C | TogoVar |
| 66560202:splice 66560202:variant goto | c.1568G>Ap.Arg523Gln | 3059413 | Benign | ACTN3:89 | SO:0001583 missense_variant |
. | + | 16 | 18 | 20 | 128 | a0001a0003a0004a0005a0006others(11): Show | a0001c0001a0003c0003a0003c0004a0003c0007a0004c0005others(13): Show | a0001c0001t0001a0001c0001t0004a0003c0003t0001a0003c0003t0002a0003c0004t0001others(15): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0009others(123): Show | HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 others(241): Show |
MODERATE | chr11 | G | A | TogoVar |
| 66562261:splice 66562261:variant goto | c.2327A>Gp.Gln776Arg | 3060488 | Benign | ACTN3:89 | SO:0001583 missense_variant |
. | + | 15 | 17 | 19 | 127 | a0001a0003a0004a0005a0006others(10): Show | a0001c0001a0003c0003a0003c0004a0003c0007a0004c0005others(12): Show | a0001c0001t0001a0001c0001t0004a0003c0003t0001a0003c0003t0002a0003c0004t0001others(14): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0009others(122): Show | HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 others(240): Show |
MODERATE | chr11 | A | G | TogoVar |
| 66563987:splice 66563987:variant goto | c.*794A>G | 259168 | Benign | CTSF:8722 | SO:0001819 synonymous_variant |
MONDO:MONDO:0014147 MedGen:C3715049 OMIM:615362 Orphanet:352709 Orphanet:79262|MedGen:C3661900|MeSH:D030342 others(1): Show |
+ | 17 | 19 | 20 | 128 | a0001a0003a0004a0005a0006others(12): Show | a0001c0001a0003c0003a0003c0004a0003c0007a0004c0005others(14): Show | a0001c0001t0001a0001c0001t0004a0003c0003t0002a0003c0004t0001a0003c0007t0001others(15): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0009others(123): Show | HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 others(240): Show |
MODIFIER | chr11 | A | G | TogoVar |
| 66566127:splice 66566127:variant goto | c.*2934C>T | 259172 | Benign | CTSF:8722 | SO:0001819 synonymous_variant |
MedGen:CN169374|MONDO:MONDO:0014147 MedGen:C3715049 OMIM:615362 Orphanet:352709 Orphanet:79262|MeSH:D030342 others(1): Show |
+ | 17 | 19 | 20 | 128 | a0001a0003a0004a0005a0006others(12): Show | a0001c0001a0003c0003a0003c0004a0003c0007a0004c0005others(14): Show | a0001c0001t0001a0001c0001t0004a0003c0003t0002a0003c0004t0001a0003c0007t0001others(15): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0009others(123): Show | HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 others(240): Show |
MODIFIER | chr11 | C | T | TogoVar |
| 66568077:splice 66568077:variant goto | c.*4884A>G | 259169 | Benign | CTSF:8722 | SO:0001819 synonymous_variant |
MONDO:MONDO:0014147 MedGen:C3715049 OMIM:615362 Orphanet:352709 Orphanet:79262|MedGen:CN169374|MeSH:D030342 others(1): Show |
+ | 17 | 19 | 20 | 128 | a0001a0003a0004a0005a0006others(12): Show | a0001c0001a0003c0003a0003c0004a0003c0007a0004c0005others(14): Show | a0001c0001t0001a0001c0001t0004a0003c0003t0002a0003c0004t0001a0003c0007t0001others(15): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0009others(123): Show | HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 others(240): Show |
MODIFIER | chr11 | A | G | TogoVar |
| 66567837:splice 66567837:variant goto | c.*4644T>C | 1271666 | Benign | CTSF:8722 | SO:0001627 intron_variant |
MedGen:C3661900 | + | 5 | 5 | 6 | 46 | a0001a0006a0010a0012a0018 | a0001c0001a0006c0013a0010c0030a0012c0017a0018c0021 | a0001c0001t0001a0001c0001t0004a0006c0013t0001a0010c0030t0001a0012c0017t0001others(1): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0025a0001c0001t0001g0026others(41): Show | HG00099.hp2 HG00438.hp2 HG00597.hp2 HG00621.hp1 HG00621.hp2 others(79): Show |
MODIFIER | chr11 | T | C | TogoVar |
| 66564251:splice 66564251:variant goto | c.*1058A>C | 1193150 | Likely_benign | CTSF:8722 | SO:0001627 intron_variant |
MedGen:C3661900 | + | 2 | 2 | 2 | 6 | a0001a0018 | a0001c0001a0018c0021 | a0001c0001t0001a0018c0021t0001 | a0001c0001t0001g0005a0001c0001t0001g0131a0001c0001t0001g0140a0001c0001t0001g0161a0001c0001t0001g0169others(1): Show | HG02055.hp1 HG02717.hp2 HG02818.hp1 HG03130.hp2 HG03453.hp2 others(2): Show |
MODIFIER | chr11 | A | C | TogoVar |
| 66564165:splice 66564165:variant goto | c.*972C>T | 1216529 | Benign/Likely_benign | CTSF:8722 | SO:0001627 intron_variant |
MedGen:C3661900|MONDO:MONDO:0014147 MedGen:C3715049 OMIM:615362 Orphanet:352709 Orphanet:79262 |
+ | 1 | 1 | 1 | 3 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006a0001c0001t0001g0137a0001c0001t0001g0159 | HG02572.hp1 HG02723.hp1 HG02895.hp2 HG02897.hp2 NA19240.hp2 |
MODIFIER | chr11 | C | T | TogoVar |
| 66564894:splice 66564894:variant goto | c.*1701G>A | 587844 | Benign/Likely_benign | CTSF:8722 | SO:0001819 synonymous_variant |
MedGen:CN169374|MedGen:C3661900|.|MONDO:MONDO:0014147 MedGen:C3715049 OMIM:615362 Orphanet:352709 Orphanet:79262|MeSH:D030342 others(1): Show |
+ | 1 | 1 | 1 | 3 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006a0001c0001t0001g0156a0001c0001t0001g0168 | HG02723.hp2 HG03579.hp2 HG06807.hp2 |
MODIFIER | chr11 | G | A | TogoVar |
| 66567085:splice 66567085:variant goto | c.*3892G>A | 1274880 | Benign | CTSF:8722 | SO:0001627 intron_variant |
MedGen:C3661900 | + | 11 | 13 | 13 | 60 | a0001a0003a0004a0005a0007others(6): Show | a0001c0001a0003c0003a0003c0004a0003c0007a0004c0005others(8): Show | a0001c0001t0001a0003c0003t0002a0003c0004t0001a0003c0007t0001a0004c0005t0001others(8): Show | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0011a0001c0001t0001g0033a0001c0001t0001g0034others(55): Show | HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00558.hp1 HG00558.hp2 others(118): Show |
MODIFIER | chr11 | G | A | TogoVar |
| 66566172:splice 66566172:variant goto | c.*2979G>A | 259171 | Benign | CTSF:8722 | SO:0001627 intron_variant |
MONDO:MONDO:0014147 MedGen:C3715049 OMIM:615362 Orphanet:352709 Orphanet:79262|MedGen:CN169374|MedGen:C3661900|MeSH:D030342 others(1): Show |
+ | 3 | 3 | 3 | 20 | a0001a0002a0016 | a0001c0001a0002c0002a0016c0022 | a0001c0001t0001a0002c0002t0001a0016c0022t0001 | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0011a0001c0001t0001g0033a0001c0001t0001g0034others(15): Show | HG00280.hp2 HG00323.hp2 HG00609.hp1 HG00738.hp2 HG00741.hp1 others(35): Show |
MODIFIER | chr11 | G | A | TogoVar |
| 66565601:splice 66565601:variant goto | c.*2408C>A | 1222574 | Benign | CTSF:8722 | SO:0001627 intron_variant |
MedGen:C3661900 | + | 10 | 12 | 12 | 55 | a0001a0003a0004a0005a0007others(5): Show | a0001c0001a0003c0003a0003c0004a0003c0007a0004c0005others(7): Show | a0001c0001t0001a0003c0003t0002a0003c0004t0001a0003c0007t0001a0004c0005t0001others(7): Show | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0011a0001c0001t0001g0033a0001c0001t0001g0034others(50): Show | HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00558.hp1 HG00558.hp2 others(113): Show |
MODIFIER | chr11 | C | A | TogoVar |
| 66563698:splice 66563698:variant goto | c.*505C>T | 1289607 | Benign | CTSF:8722 | SO:0001624 3_prime_UTR_variant |
MedGen:C3661900 | + | 2 | 2 | 2 | 19 | a0001a0016 | a0001c0001a0016c0022 | a0001c0001t0001a0016c0022t0001 | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0011a0001c0001t0001g0033a0001c0001t0001g0034others(14): Show | HG00280.hp2 HG00323.hp2 HG00609.hp1 HG00738.hp2 HG00741.hp1 others(34): Show |
MODIFIER | chr11 | C | T | TogoVar |
| 66565281:splice 66565281:variant goto | c.*2088C>G | 1290217 | Benign | CTSF:8722 | SO:0001627 intron_variant |
MedGen:C3661900 | + | 2 | 2 | 2 | 19 | a0001a0016 | a0001c0001a0016c0022 | a0001c0001t0001a0016c0022t0001 | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0011a0001c0001t0001g0033a0001c0001t0001g0034others(14): Show | HG00280.hp2 HG00323.hp2 HG00609.hp1 HG00738.hp2 HG00741.hp1 others(34): Show |
MODIFIER | chr11 | C | G | TogoVar |
| 66566520:splice 66566520:variant goto | c.*3327A>G | 1268705 | Benign | CTSF:8722 | SO:0001627 intron_variant |
MedGen:C3661900 | + | 2 | 2 | 2 | 19 | a0001a0016 | a0001c0001a0016c0022 | a0001c0001t0001a0016c0022t0001 | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0011a0001c0001t0001g0033a0001c0001t0001g0034others(14): Show | HG00280.hp2 HG00323.hp2 HG00609.hp1 HG00738.hp2 HG00741.hp1 others(34): Show |
MODIFIER | chr11 | A | G | TogoVar |
| 66567401:splice 66567401:variant goto | c.*4209_*4224delGGCTCCTCAAGCTGAG | 558826 | Benign | CTSF:8722 | SO:0001575 splice_donor_variant |
MedGen:CN517202 | + | 1 | 1 | 1 | 7 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007a0001c0001t0001g0020a0001c0001t0001g0052a0001c0001t0001g0053a0001c0001t0001g0054others(2): Show | HG01243.hp1 HG02074.hp2 HG02132.hp1 HG02258.hp1 HG02630.hp1 others(4): Show |
MODIFIER | chr11 | TGGCTCCT others(9): Show |
T | TogoVar |
| 66566727:splice 66566727:variant goto | c.*3534_*3535insT | 1261306 | Benign | CTSF:8722 | SO:0001627 intron_variant |
MedGen:C3661900 | + | 3 | 3 | 3 | 7 | a0001a0002a0009 | a0001c0001a0002c0002a0009c0012 | a0001c0001t0001a0002c0002t0001a0009c0012t0001 | a0001c0001t0001g0011a0001c0001t0001g0116a0001c0001t0001g0117a0001c0001t0001g0186a0002c0002t0001g0001others(2): Show | HG01109.hp1 HG01243.hp2 HG01884.hp1 HG03098.hp2 HG03225.hp2 others(2): Show |
MODIFIER | chr11 | C | CT | TogoVar |
| 66566398:splice 66566398:variant goto | c.*3205C>A | 710694 | Conflicting_classifications_of_pathogenicity | CTSF:8722 | SO:0001583 missense_variant |
MedGen:C3661900|MeSH:D030342 MedGen:C0950123|MONDO:MONDO:0014147 MedGen:C3715049 OMIM:615362 Orphanet:352709 others(1): Show |
+ | 1 | 1 | 1 | 1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | HG02559.hp2 HG02965.hp2 |
MODIFIER | chr11 | C | A | TogoVar |
| 66564661:splice 66564661:variant goto | c.*1468A>G | 1215052 | Benign/Likely_benign | CTSF:8722 | SO:0001627 intron_variant |
MedGen:C3661900|MONDO:MONDO:0014147 MedGen:C3715049 OMIM:615362 Orphanet:352709 Orphanet:79262 |
+ | 1 | 1 | 1 | 1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | HG01109.hp2 HG03486.hp2 |
MODIFIER | chr11 | A | G | TogoVar |
| 66564100:splice 66564100:variant goto | c.*907G>A | 259167 | Benign/Likely_benign | CTSF:8722 | SO:0001819 synonymous_variant |
MeSH:D030342 MedGen:C0950123|MONDO:MONDO:0014147 MedGen:C3715049 OMIM:615362 Orphanet:352709 others(1): Show |
+ | 1 | 1 | 1 | 3 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116a0001c0001t0001g0117a0001c0001t0001g0186 | HG01243.hp2 HG01884.hp1 HG03225.hp2 |
MODIFIER | chr11 | G | A | TogoVar |
| 66565856:splice 66565856:variant goto | c.*2663C>T | 259173 | Benign/Likely_benign | CTSF:8722 | SO:0001819 synonymous_variant |
MONDO:MONDO:0014147 MedGen:C3715049 OMIM:615362 Orphanet:352709 Orphanet:79262|MedGen:C3661900|MeSH:D030342 others(1): Show |
+ | 1 | 1 | 1 | 3 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116a0001c0001t0001g0117a0001c0001t0001g0186 | HG01243.hp2 HG01884.hp1 HG03225.hp2 |
MODIFIER | chr11 | C | T | TogoVar |
| 66567802:splice 66567802:variant goto | c.*4609G>A | 1283336 | Benign | CTSF:8722 | SO:0001627 intron_variant |
MedGen:C3661900 | + | 2 | 2 | 2 | 5 | a0001a0009 | a0001c0001a0009c0012 | a0001c0001t0001a0009c0012t0001 | a0001c0001t0001g0116a0001c0001t0001g0117a0001c0001t0001g0186a0009c0012t0001g0082a0009c0012t0001g0099 | HG01109.hp1 HG01243.hp2 HG01884.hp1 HG03098.hp2 HG03225.hp2 |
MODIFIER | chr11 | G | A | TogoVar |
| 66567944:splice 66567944:variant goto | c.*4751C>G | 1268258 | Benign | CTSF:8722 | SO:0001627 intron_variant |
MedGen:C3661900 | + | 2 | 2 | 2 | 5 | a0001a0009 | a0001c0001a0009c0012 | a0001c0001t0001a0009c0012t0001 | a0001c0001t0001g0116a0001c0001t0001g0117a0001c0001t0001g0186a0009c0012t0001g0082a0009c0012t0001g0099 | HG01109.hp1 HG01243.hp2 HG01884.hp1 HG03098.hp2 HG03225.hp2 |
MODIFIER | chr11 | C | G | TogoVar |
| 66564618:splice 66564618:variant goto | c.*1425G>A | 376976 | Benign/Likely_benign | CTSF:8722 | SO:0001583 missense_variant |
MedGen:C3661900|MeSH:D030342 MedGen:C0950123|MONDO:MONDO:0014147 MedGen:C3715049 OMIM:615362 Orphanet:352709 others(1): Show |
+ | 1 | 1 | 1 | 4 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128a0001c0001t0001g0141a0001c0001t0001g0142a0001c0001t0001g0174 | HG01255.hp2 HG03139.hp2 NA19030.hp1 NA19240.hp1 |
MODIFIER | chr11 | G | A | TogoVar |
| 66567956:splice 66567956:variant goto | c.*4763G>A | 1188000 | Likely_benign | CTSF:8722 | SO:0001627 intron_variant |
MedGen:C3661900 | + | 2 | 2 | 2 | 2 | a0001a0014 | a0001c0001a0014c0018 | a0001c0001t0001a0014c0018t0001 | a0001c0001t0001g0167a0014c0018t0001g0172 | HG02976.hp1 HG03516.hp2 |
MODIFIER | chr11 | G | A | TogoVar |
| 66567517:splice 66567517:variant goto | c.*4324T>C | 259170 | Benign/Likely_benign | CTSF:8722 | SO:0001583 missense_variant |
MedGen:C3661900|MeSH:D030342 MedGen:C0950123|MONDO:MONDO:0014147 MedGen:C3715049 OMIM:615362 Orphanet:352709 others(1): Show |
+ | 1 | 1 | 1 | 1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175 | HG02145.hp1 | MODIFIER | chr11 | T | C | TogoVar |
| CHR:POS | annotationhgvs_chgvs_p | disease trait-log10podds or beta | AHAPIDS ahapids
|
ACHAPIDS achapids
|
ACTHAPIDS acthapids
|
ACTGHAPIDS actghapids
|
haplotypeids haplotypeids
|
study | initial sample size/replication sample size | report genes | mapped gene | strongest snp risk allele | strand strand
|
impact | chr | ref | alt |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr11:66567837
|
c.*4644T>C | Bipolar disorder1.2 | a0001a0006a0010a0012a0018 | a0001c0001a0006c0013a0010c0030a0012c0017a0018c0021 | a0001c0001t0001a0001c0001t0004a0006c0013t0001a0010c0030t0001a0012c0017t0001others(1): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0025a0001c0001t0001g0026others(41): Show | HG00099.hp2 HG00438.hp2 HG00597.hp2 HG00621.hp1 HG00621.hp2 others(79): Show |
Genome-wide association and meta-analysis of bipol others(48): Show |
3,683 European ancestry cases, 14,507 European anc others(15): Show |
NR | CTSF | rs2242663-T | + | MODIFIER | chr11 | T | C |
|
chr11:66561406
|
c.1995+45G>A | Blood protein levels0.1803852 | a0001a0004a0006a0010a0012others(3): Show | a0001c0001a0004c0005a0006c0013a0010c0030a0012c0017others(3): Show | a0001c0001t0001a0001c0001t0004a0004c0005t0001a0006c0013t0001a0010c0030t0001others(4): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0020a0001c0001t0001g0021others(66): Show | HG00099.hp2 HG00280.hp1 HG00438.hp2 HG00597.hp2 HG00621.hp1 others(124): Show |
Co-regulatory networks of human serum proteins lin others(22): Show |
3,200 European ancestry individuals/ | CTSF | ACTN3 | rs607736-G | + | MODIFIER | chr11 | G | A |
|
chr11:66556951
|
c.805-182C>T | Red blood cell count | a0001a0002a0004a0006a0010others(5): Show | a0001c0001a0002c0002a0004c0005a0006c0013a0010c0030others(5): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0001a0004c0005t0001a0006c0013t0001others(6): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0009others(85): Show | HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00438.hp2 others(163): Show |
Leveraging Polygenic Functional Enrichment to Impr others(15): Show |
approximately 445,000 European ancestry individual others(2): Show |
ACTN3 | rs679228-? | + | MODIFIER | chr11 | C | T | |
|
chr11:66562261
|
c.2327A>Gp.Gln776Arg | Nonatopic asthma | a0001a0003a0004a0005a0006others(10): Show | a0001c0001a0003c0003a0003c0004a0003c0007a0004c0005others(12): Show | a0001c0001t0001a0001c0001t0004a0003c0003t0001a0003c0003t0002a0003c0004t0001others(14): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0009others(122): Show | HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 others(240): Show |
Shared Genetic and Experimental Links between Obes others(53): Show |
28,862 European ancestry cases, 422,048 European a others(17): Show |
NR | ACTN3 | rs540874-A | + | MODERATE | chr11 | A | G |
|
chr11:66556951
|
c.805-182C>T | Height | a0001a0002a0004a0006a0010others(5): Show | a0001c0001a0002c0002a0004c0005a0006c0013a0010c0030others(5): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0001a0004c0005t0001a0006c0013t0001others(6): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0009others(85): Show | HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00438.hp2 others(163): Show |
Leveraging Polygenic Functional Enrichment to Impr others(15): Show |
approximately 458,000 European ancestry individual others(2): Show |
ACTN3 | rs679228-? | + | MODIFIER | chr11 | C | T | |
|
chr11:66551842
|
c.382+195A>G | Frontotemporal dementia with GRN mutationothers(5): Show | a0001a0002a0003a0004a0005others(13): Show | a0001c0001a0002c0002a0002c0024a0003c0003a0003c0004others(16): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0001a0002c0024t0001a0003c0003t0002others(17): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0009others(129): Show | HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 others(249): Show |
Potential genetic modifiers of disease risk and ag others(113): Show |
382 European ancestry cases, 1,146 European ancest others(72): Show |
ACTN3 | ACTN3 | rs10791882-A | + | MODIFIER | chr11 | A | G |
|
chr11:66561406
|
c.1995+45G>A | Serum levels of protein CTSF0.202496 | a0001a0004a0006a0010a0012others(3): Show | a0001c0001a0004c0005a0006c0013a0010c0030a0012c0017others(3): Show | a0001c0001t0001a0001c0001t0004a0004c0005t0001a0006c0013t0001a0010c0030t0001others(4): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0020a0001c0001t0001g0021others(66): Show | HG00099.hp2 HG00280.hp1 HG00438.hp2 HG00597.hp2 HG00621.hp1 others(124): Show |
A genome-wide association study of serum proteins others(41): Show |
5,364 Icelandic ancestry individuals/ | ACTN3 | rs607736-A | + | MODIFIER | chr11 | G | A | |
|
chr11:66557112
|
c.805-21T>C | Bipolar disorder1.05601 | a0001a0002a0003a0004a0005others(12): Show | a0001c0001a0002c0002a0003c0003a0003c0004a0003c0007others(14): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0001a0003c0003t0002a0003c0004t0001others(15): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0009others(121): Show | HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 others(238): Show |
Genome-wide association study of more than 40,000 others(73): Show |
41,917 European ancestry cases, 371,549 European a others(17): Show |
PC | ACTN3 | rs678397-T | + | MODIFIER | chr11 | T | C |
|
chr11:66557112
|
c.805-21T>C |
Cathepsin F (analyte X9212.22) levels0.2 others(3): Show |
a0001a0002a0003a0004a0005others(12): Show | a0001c0001a0002c0002a0003c0003a0003c0004a0003c0007others(14): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0001a0003c0003t0002a0003c0004t0001others(15): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0009others(121): Show | HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 others(238): Show |
Proteogenomic analysis of human cerebrospinal flui others(103): Show |
3,506 European ancestry individuals/ | ACTN3 | rs678397-T | + | MODIFIER | chr11 | T | C | |
|
chr11:66557112
|
c.805-21T>C | Bcl-2-related protein A1 levels0.168 | a0001a0002a0003a0004a0005others(12): Show | a0001c0001a0002c0002a0003c0003a0003c0004a0003c0007others(14): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0001a0003c0003t0002a0003c0004t0001others(15): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0009others(121): Show | HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 others(238): Show |
Proteogenomic analysis of human cerebrospinal flui others(103): Show |
3,506 European ancestry individuals/ | ACTN3 | rs678397-T | + | MODIFIER | chr11 | T | C | |
|
chr11:66558891
|
c.1277-345A>G |
Bipolar disorder or ulcerative colitis (MTAG) others(10): Show |
a0001a0002a0003a0004a0005others(13): Show | a0001c0001a0002c0002a0002c0024a0003c0003a0003c0004others(16): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0001a0002c0024t0001a0003c0003t0002others(17): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0009others(124): Show | HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 others(241): Show |
Genetic correlation, shared loci, but no causality others(93): Show |
41,917 European ancestry bipolar disorder cases, 1 others(85): Show |
ACTN3 | rs509556-A | + | MODIFIER | chr11 | A | G | |
|
chr11:66561248
|
c.1882T>Cp.Cys628Arg | Photoreceptor cell layer thickness phenotypes (MTAG)others(16): Show | a0001a0002a0003a0004a0005others(12): Show | a0001c0001a0002c0024a0003c0003a0003c0004a0003c0007others(14): Show | a0001c0001t0001a0001c0001t0004a0002c0024t0001a0003c0003t0001a0003c0003t0002others(16): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0009others(125): Show | HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 others(243): Show |
Sub-cellular level resolution of common genetic va others(98): Show |
31,135 European ancestry individuals/ | ACTN3 | rs618838-C | + | MODERATE | chr11 | T | C | |
|
chr11:66562261
|
c.2327A>Gp.Gln776Arg | Nonatopic asthma and/or BMI | a0001a0003a0004a0005a0006others(10): Show | a0001c0001a0003c0003a0003c0004a0003c0007a0004c0005others(12): Show | a0001c0001t0001a0001c0001t0004a0003c0003t0001a0003c0003t0002a0003c0004t0001others(14): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0009others(122): Show | HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 others(240): Show |
Shared Genetic and Experimental Links between Obes others(53): Show |
28,862 European ancestry cases, 422,048 European a others(54): Show |
NR | ACTN3 | rs540874-A | + | MODERATE | chr11 | A | G |
|
chr11:66562261
|
c.2327A>Gp.Gln776Arg | Body mass index | a0001a0003a0004a0005a0006others(10): Show | a0001c0001a0003c0003a0003c0004a0003c0007a0004c0005others(12): Show | a0001c0001t0001a0001c0001t0004a0003c0003t0001a0003c0003t0002a0003c0004t0001others(14): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0009others(122): Show | HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 others(240): Show |
Shared Genetic and Experimental Links between Obes others(53): Show |
457,822 European ancestry individuals/ | NR | ACTN3 | rs540874-A | + | MODERATE | chr11 | A | G |
|
chr11:66559110
|
c.1277-126T>C | Dried fruit consumption0.0191083 | a0001a0003a0005a0007a0009others(4): Show | a0001c0001a0003c0003a0003c0004a0003c0007a0005c0006others(6): Show | a0001c0001t0001a0003c0003t0001a0003c0003t0002a0003c0004t0001a0003c0007t0001others(7): Show | a0001c0001t0001g0025a0001c0001t0001g0116a0001c0001t0001g0117a0001c0001t0001g0160a0001c0001t0001g0186others(37): Show | HG00323.hp1 HG00408.hp1 HG00558.hp1 HG00558.hp2 HG00642.hp1 others(79): Show |
Comprehensive genomic analysis of dietary habits i others(57): Show |
444,741 European ancestry individuals/ | ACTN3 | rs2275998-T | + | MODIFIER | chr11 | T | C | |
|
chr11:66542909
|
c.-4029C>T | Cathepsin F levels0.203515 | a0001a0002a0006a0010a0012others(3): Show | a0001c0001a0002c0002a0006c0013a0010c0030a0012c0017others(3): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0001a0006c0013t0001a0010c0030t0001others(4): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0020a0001c0001t0001g0021others(64): Show | HG00099.hp2 HG00280.hp1 HG00438.hp2 HG00597.hp2 HG00621.hp1 others(118): Show |
Differences and commonalities in the genetic archi others(76): Show |
2,935 Qatari ancestry individuals/ | ZDHHC24 | rs610293-T | + | MODIFIER | chr11 | C | T |