| geneid | 18 |
|---|---|
| ensemblid | ENSG00000183044.12 |
| hgncid | 23 |
| symbol | ABAT |
| name | 4-aminobutyrate aminotransferase |
| refseq_nuc | NM_020686.6 |
| refseq_prot | NP_065737.2 |
| ensembl_nuc | ENST00000268251.13 |
| ensembl_prot | ENSP00000268251.8 |
| mane_status | MANE Select |
| chr | chr16 |
| start | 8674617 |
| end | 8784570 |
| strand | + |
| ver | v1.2 |
| region | chr16:8674617-8784570 |
| region5000 | chr16:8669617-8789570 |
| regionname0 | ABAT_chr16_8674617_8784570 |
| regionname5000 | ABAT_chr16_8669617_8789570 |
| 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 |
|---|
| 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 |
|---|
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr16:8781672
|
G | T | 0.3757 | 3_prime_UTR_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00609.hp1 others(133): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0011others(7): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0012others(29): Show | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0038others(133): Show | 136 | 362 | 0 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 16/16 | c.*242G>T | 242 | |||||
|
chr16:8781942
|
G | A | 0.3702 | 3_prime_UTR_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00609.hp1 others(131): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0011others(7): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0012others(27): Show | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0038others(131): Show | 134 | 362 | 0 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 16/16 | c.*512G>A | 512 | |||||
|
chr16:8782345
|
C | G | 0.3840 | 3_prime_UTR_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00609.hp1 others(136): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0011others(8): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0012others(31): Show | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0038others(136): Show | 139 | 362 | 0 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 16/16 | c.*915C>G | 915 | |||||
|
chr16:8782420
|
G | C | 0.6354 | 3_prime_UTR_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(227): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0011others(11): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(52): Show | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0038others(227): Show | 230 | 362 | 0 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 16/16 | c.*990G>C | 990 | |||||
|
chr16:8782561
|
G | A | 0.5939 | 3_prime_UTR_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(212): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0011others(11): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(42): Show | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0038others(212): Show | 215 | 362 | 0 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 16/16 | c.*1131G>A | 1131 | |||||
|
chr16:8783023
|
T | A | 0.3812 | 3_prime_UTR_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00609.hp1 others(135): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0011others(8): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0012others(30): Show | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0038others(135): Show | 138 | 362 | 0 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 16/16 | c.*1593T>A | 1593 | |||||
|
chr16:8783363
|
T | C | 0.9337 | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(335): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0011others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(82): Show | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0038others(335): Show | 338 | 362 | 0 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 16/16 | c.*1933T>C | 1933 | |||||
|
chr16:8783544
|
G | A | 0.6326 | 3_prime_UTR_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(226): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0011others(11): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(51): Show | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0038others(226): Show | 229 | 362 | 0 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 16/16 | c.*2114G>A | 2114 | |||||
|
chr16:8783997
|
C | G | 0.6298 | 3_prime_UTR_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(225): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0011others(11): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(50): Show | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0038others(225): Show | 228 | 362 | 0 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 16/16 | c.*2567C>G | 2567 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABAT | 1/1 | a0002 | 500 | 162 | 60 | 21 | 59 | 5 | 15 | subcellular location copy fasta | chr16 | 8669617 | 8789570 |
| 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
|
chapid | clen | total | AFR | AMR | EAS | EUR | SAS | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABAT | 1/0 | c0002 | 1503 | 73 | 30 | 11 | 21 | 3 | 7 | copy fasta | chr16 | 8669617 | 8789570 |
| genename | grch38/chm13v2 | thapid | tlen | total | AFR | AMR | EAS | EUR | SAS | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABAT | 0/1 | t0001 | 3277 | 94 | 18 | 17 | 43 | 3 | 12 | copy fasta | chr16 | 8669617 | 8789570 |
| 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 |
achapid | total | AFR | AMR | EAS | EUR | SAS | clen | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABAT | 1/0 | a0002c0002 | 73 | 30 | 11 | 21 | 3 | 7 | 1503 | copy fasta | chr16 | 8669617 | 8789570 |
| 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 |
acthapid | total | AFR | AMR | EAS | EUR | SAS | tlen | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABAT | 0/0 | a0002c0002t0001 | 13 | 6 | 1 | 3 | 1 | 2 | 4779 | copy fasta | chr16 | 8669617 | 8789570 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 8674711 | + | 1 | -0.8181 | -0.7977 | -0.7932 | 0.0249 | acceptor | a0002c0002t0001 | HG02451.hp1 | NA18960.hp1 | ABAT | chr16 | 8669617 | 8789570 |
| 8735699 | + | 2 | 0.9895 | 0.9868 | 0.9857 | 0.0039 | donor | a0002c0002t0001 | HG02451.hp1 | HG02818.hp1 | ABAT | chr16 | 8669617 | 8789570 |
| 8735809 | + | 2 | -0.9962 | -0.9955 | -0.9950 | 0.0012 | acceptor | a0002c0002t0001 | HG06807.hp1 | HG02451.hp1 | ABAT | chr16 | 8669617 | 8789570 |
| 8746001 | + | 3 | 0.9978 | 0.9978 | 0.9976 | 0.0002 | donor | a0002c0002t0001 | HG02451.hp1 HG03453.hp1 HG06807.hp1 |
HG00609.hp2 | ABAT | chr16 | 8669617 | 8789570 |
| 8746098 | + | 3 | -0.9989 | -0.9988 | -0.9987 | 0.0001 | acceptor | a0002c0002t0001 | HG02818.hp1 | HG01074.hp1 | ABAT | chr16 | 8669617 | 8789570 |
| 8748108 | + | 4 | 0.9940 | 0.9914 | 0.9912 | 0.0028 | donor | a0002c0002t0001 | HG02451.hp1 | HG03041.hp1 | ABAT | chr16 | 8669617 | 8789570 |
| 8748137 | + | 4 | -0.9880 | -0.9876 | -0.9871 | 0.0010 | acceptor | a0002c0002t0001 | HG03195.hp2 HG03453.hp1 HG06807.hp1 |
HG02451.hp1 | ABAT | chr16 | 8669617 | 8789570 |
| 8750422 | + | 5 | 0.9953 | 0.9945 | 0.9939 | 0.0015 | donor | a0002c0002t0001 | NA18991.hp2 | HG02451.hp1 | ABAT | chr16 | 8669617 | 8789570 |
| 8750539 | + | 5 | -0.9972 | -0.9969 | -0.9962 | 0.0009 | acceptor | a0002c0002t0001 | HG02818.hp1 | HG02451.hp1 | ABAT | chr16 | 8669617 | 8789570 |
| 8757757 | + | 6 | 0.8944 | 0.8752 | 0.8716 | 0.0228 | donor | a0002c0002t0001 | HG03453.hp1 HG06807.hp1 |
HG03041.hp1 | ABAT | chr16 | 8669617 | 8789570 |
| 8757806 | + | 6 | -0.9128 | -0.9098 | -0.8789 | 0.0338 | acceptor | a0002c0002t0001 | HG01074.hp1 | HG02818.hp1 | ABAT | chr16 | 8669617 | 8789570 |
| 8764069 | + | 7 | 0.9978 | 0.9976 | 0.9972 | 0.0006 | donor | a0002c0002t0001 | NA18960.hp1 | NA18991.hp2 | ABAT | chr16 | 8669617 | 8789570 |
| 8764149 | + | 7 | -0.9988 | -0.9986 | -0.9986 | 0.0002 | acceptor | a0002c0002t0001 | HG00609.hp2 HG03195.hp2 NA20905.hp2 |
HG01515.hp2 HG02818.hp1 |
ABAT | chr16 | 8669617 | 8789570 |
| 8764738 | + | 8 | 0.9966 | 0.9917 | 0.9902 | 0.0064 | donor | a0002c0002t0001 | NA18960.hp1 | HG02451.hp1 | ABAT | chr16 | 8669617 | 8789570 |
| 8764830 | + | 8 | -0.9795 | -0.9711 | -0.9589 | 0.0206 | acceptor | a0002c0002t0001 | HG03195.hp2 | HG02818.hp1 | ABAT | chr16 | 8669617 | 8789570 |
| 8766208 | + | 9 | 0.9945 | 0.9937 | 0.9916 | 0.0030 | donor | a0002c0002t0001 | HG01515.hp2 | HG02451.hp1 | ABAT | chr16 | 8669617 | 8789570 |
| 8766270 | + | 9 | -0.9979 | -0.9979 | -0.9977 | 0.0003 | acceptor | a0002c0002t0001 | HG03453.hp1 HG06807.hp1 |
HG03195.hp2 | ABAT | chr16 | 8669617 | 8789570 |
| 8768193 | + | 10 | 0.9951 | 0.9936 | 0.9922 | 0.0030 | donor | a0002c0002t0001 | HG04184.hp2 | HG03041.hp1 | ABAT | chr16 | 8669617 | 8789570 |
| 8768256 | + | 10 | -0.9849 | -0.9818 | -0.9802 | 0.0047 | acceptor | a0002c0002t0001 | HG04184.hp2 | HG02451.hp1 | ABAT | chr16 | 8669617 | 8789570 |
| 8768825 | + | 11 | 0.9968 | 0.9966 | 0.9962 | 0.0006 | donor | a0002c0002t0001 | NA20905.hp2 | HG02451.hp1 | ABAT | chr16 | 8669617 | 8789570 |
| 8768973 | + | 11 | -0.9991 | -0.9990 | -0.9990 | 0.0001 | acceptor | a0002c0002t0001 | NA20905.hp2 | HG06807.hp1 | ABAT | chr16 | 8669617 | 8789570 |
| 8772780 | + | 12 | 0.9960 | 0.9942 | 0.9906 | 0.0054 | donor | a0002c0002t0001 | HG02451.hp1 | HG01515.hp2 | ABAT | chr16 | 8669617 | 8789570 |
| 8772917 | + | 12 | -0.9984 | -0.9982 | -0.9978 | 0.0006 | acceptor | a0002c0002t0001 | HG02451.hp1 | HG06807.hp1 | ABAT | chr16 | 8669617 | 8789570 |
| 8774890 | + | 13 | 0.9948 | 0.9946 | 0.9943 | 0.0004 | donor | a0002c0002t0001 | HG01074.hp1 | HG02451.hp1 | ABAT | chr16 | 8669617 | 8789570 |
| 8775057 | + | 13 | -0.9979 | -0.9978 | -0.9976 | 0.0003 | acceptor | a0002c0002t0001 | HG00609.hp2 | HG03041.hp1 | ABAT | chr16 | 8669617 | 8789570 |
| 8776344 | + | 14 | 0.9967 | 0.9967 | 0.9962 | 0.0006 | donor | a0002c0002t0001 | HG02451.hp1 | HG03195.hp2 HG03453.hp1 HG06807.hp1 |
ABAT | chr16 | 8669617 | 8789570 |
| 8776490 | + | 14 | -0.9992 | -0.9991 | -0.9991 | 0.0000 | acceptor | a0002c0002t0001 | HG01515.hp2 | HG03041.hp1 | ABAT | chr16 | 8669617 | 8789570 |
| 8779479 | + | 15 | 0.9827 | 0.9794 | 0.9782 | 0.0045 | donor | a0002c0002t0001 | HG02451.hp1 | HG03195.hp2 HG03453.hp1 HG06807.hp1 |
ABAT | chr16 | 8669617 | 8789570 |
| 8779590 | + | 15 | -0.9841 | -0.9838 | -0.9822 | 0.0018 | acceptor | a0002c0002t0001 | NA20905.hp2 | HG02451.hp1 | ABAT | chr16 | 8669617 | 8789570 |
| 8781309 | + | 16 | 0.5316 | 0.5285 | 0.4957 | 0.0358 | donor | a0002c0002t0001 | NA20905.hp2 | HG02818.hp1 | ABAT | chr16 | 8669617 | 8789570 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr16:8777224
|
c.1269+734T>A | Anger0.26 | a0001a0002a0003a0005a0006 | a0001c0001a0001c0003a0001c0011a0001c0013a0001c0021others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(80): Show | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0038a0001c0001t0001g0059a0001c0001t0001g0076others(311): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(311): Show |
Genome-wide association study of proneness to ange others(2): Show |
8,747 European ancestry individuals/ | ABAT | ABAT | rs1299926-T | + | MODIFIER | chr16 | T | A |
|
chr16:8781672
|
c.*242G>T | Alzheimer's disease or gastroesophageal reflux diseaseothers(14): Show | a0001a0002a0003a0004 | a0001c0001a0001c0003a0001c0011a0001c0021a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0012a0001c0001t0037a0001c0001t0039others(27): Show | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0038a0001c0001t0001g0058a0001c0001t0001g0059others(131): Show | HG00438.hp1 HG00544.hp1 HG00609.hp1 HG00609.hp2 HG00673.hp2 others(131): Show |
A large-scale genome-wide cross-trait analysis rev others(98): Show |
71,880 European ancestry Alzheimer's disease or AD others(95): Show |
ABAT, TMEM186 | rs2270288-T | + | MODIFIER | chr16 | G | T | |
|
chr16:8705306
|
c.-41-30393G>A |
Protein quantitative trait loci (liver)0 others(6): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0002c0017a0004c0014 | a0001c0001t0003a0001c0001t0008a0002c0002t0002a0002c0002t0003a0002c0002t0006others(3): Show | a0001c0001t0003g0042a0001c0001t0008g0040a0002c0002t0002g0006a0002c0002t0003g0309a0002c0002t0006g0043others(3): Show | HG01192.hp2 HG02055.hp2 HG02109.hp1 HG02145.hp1 HG02723.hp2 others(3): Show |
Genome-wide pQTL analysis of protein expression re others(37): Show |
172 European ancestry individuals, 29 Black indivi others(22): Show |
NR | ABAT | rs59791969-A | + | MODIFIER | chr16 | G | A |
|
chr16:8777531
|
c.1269+1041T>C | Response to opioid analgesics in cancer (pain decrease)others(19): Show | a0001a0002a0003a0004a0005others(1): Show | a0001c0001a0001c0003a0001c0011a0001c0013a0001c0021others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(76): Show | a0001c0001t0001g0011a0001c0001t0001g0038a0001c0001t0001g0059a0001c0001t0001g0076a0001c0001t0001g0081others(253): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(253): Show |
Gamma-aminobutyric acid transaminase genetic polym others(120): Show |
71 Japanese ancestry individuals/ | ABAT | ABAT | rs1641025-T | + | MODIFIER | chr16 | T | C |
|
chr16:8740228
|
c.70+4419G>A |
Bronchopulmonary dysplasia in preterm infants others(13): Show |
a0001a0002 | a0001c0003a0002c0002a0002c0004a0002c0006a0002c0016others(2): Show | a0001c0003t0003a0002c0002t0001a0002c0002t0002a0002c0002t0003a0002c0002t0004others(18): Show | a0001c0003t0003g0083a0001c0003t0003g0357a0002c0002t0001g0021a0002c0002t0001g0140a0002c0002t0001g0170others(48): Show | HG00140.hp1 HG00609.hp2 HG00621.hp2 HG00673.hp2 HG00735.hp2 others(48): Show |
Ancestry and Genetic Associations with Bronchopulm others(35): Show |
136 European ancestry cases, 82 African American c others(107): Show |
ABAT | ABAT | rs75055007-? | + | MODIFIER | chr16 | G | A |
|
chr16:8747452
|
c.169-656G>A | Phosphomannomutase 2 levels0.646 | a0001a0002a0003a0004a0005others(1): Show | a0001c0001a0001c0003a0001c0011a0001c0013a0001c0021others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(89): Show | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0038a0001c0001t0001g0058a0001c0001t0001g0059others(340): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(340): Show |
Mapping the proteo-genomic convergence of human di others(7): Show |
10,708 European ancestry individuals/ | ABAT | rs1731033-A | + | MODIFIER | chr16 | G | A | |
|
chr16:8670571
|
c.-4182T>C |
Gut microbiome abundance (class Megasphaera micronuciformis (at 1 year) x Household furry pet dog (1 others(82): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0023a0002c0002a0002c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0005a0001c0001t0011others(28): Show | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0058a0001c0001t0001g0239a0001c0001t0001g0246others(77): Show | HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00639.hp2 HG00733.hp1 others(77): Show |
Gene-by-environment interactions modulate the infa others(38): Show |
up to 688 European ancestry, South Asian ancestry, others(238): Show |
METTL22 - ABAT | rs1345300-C | + | MODIFIER | chr16 | T | C |