| geneid | 10350 |
|---|---|
| ensemblid | ENSG00000154258.17 |
| hgncid | 39 |
| symbol | ABCA9 |
| name | ATP binding cassette subfamily A member 9 |
| refseq_nuc | NM_080283.4 |
| refseq_prot | NP_525022.2 |
| ensembl_nuc | ENST00000340001.9 |
| ensembl_prot | ENSP00000342216.3 |
| mane_status | MANE Select |
| chr | chr17 |
| start | 68974488 |
| end | 69060927 |
| strand | - |
| ver | v1.2 |
| region | chr17:68974488-69060927 |
| region5000 | chr17:68969488-69065927 |
| regionname0 | ABCA9_chr17_68974488_69060927 |
| regionname5000 | ABCA9_chr17_68969488_69065927 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr17:68989851
|
T | G | 0.3782 | missense_variant | MODERATE | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(115): Show |
a0002a0006a0013others(4): Show | a0002c0002a0002c0004a0002c0026others(8): Show | a0002c0002t0002a0002c0002t0007a0002c0004t0002others(9): Show | a0002c0002t0002g0002a0002c0002t0002g0005a0002c0002t0002g0006others(111): Show | 118 | 312 | 0 | ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 30/39 | c.3917A>C | p.Lys1306Thr | 3992/6377 | 3917/4875 | 1306/1624 | ||
|
chr17:69035316
|
C | T | 0.8910 | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(275): Show |
a0001a0002a0004others(19): Show | a0001c0001a0001c0007a0001c0008others(28): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(36): Show | a0001c0001t0001g0007a0001c0001t0001g0012a0001c0001t0001g0061others(263): Show | 278 | 312 | 0 | ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 8/39 | c.1058G>A | p.Arg353His | 1133/6377 | 1058/4875 | 353/1624 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABCA9 | 0/1 | a0002 | 1624 | 108 | 10 | 21 | 57 | 6 | 13 | subcellular location copy fasta | chr17 | 68969488 | 69065927 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 69060866 | - | 1 | -0.3290 | -0.3182 | -0.2858 | 0.0432 | acceptor | a0002 | HG00280.hp1 | HG00544.hp1 | ABCA9 | chr17 | 68969488 | 69065927 |
| 69051031 | - | 2 | -0.9669 | -0.9546 | -0.9366 | 0.0303 | acceptor | a0002 | NA18967.hp2 | HG02602.hp2 | ABCA9 | chr17 | 68969488 | 69065927 |
| 69051139 | - | 2 | 0.9357 | 0.9278 | 0.9092 | 0.0265 | donor | a0002 | HG01934.hp2 | NA18967.hp2 | ABCA9 | chr17 | 68969488 | 69065927 |
| 69049283 | - | 3 | -0.8255 | -0.8065 | -0.7488 | 0.0767 | acceptor | a0002 | HG00438.hp1 HG00642.hp1 HG02080.hp2 NA18747.hp1 NA18968.hp2 others(1): Show |
HG00280.hp1 | ABCA9 | chr17 | 68969488 | 69065927 |
| 69049490 | - | 3 | 0.8308 | 0.8148 | 0.7989 | 0.0319 | donor | a0002 | NA18967.hp2 | HG04204.hp1 | ABCA9 | chr17 | 68969488 | 69065927 |
| 69045172 | - | 4 | -0.9942 | -0.9940 | -0.9936 | 0.0006 | acceptor | a0002 | HG00140.hp1 NA18987.hp2 |
NA18990.hp1 | ABCA9 | chr17 | 68969488 | 69065927 |
| 69045336 | - | 4 | 0.9962 | 0.9960 | 0.9958 | 0.0004 | donor | a0002 | HG00438.hp1 HG00642.hp1 HG02080.hp2 NA18747.hp1 NA18968.hp2 others(1): Show |
NA18987.hp2 | ABCA9 | chr17 | 68969488 | 69065927 |
| 69044497 | - | 5 | -0.9940 | -0.9939 | -0.9934 | 0.0006 | acceptor | a0002 | NA18990.hp1 | NA18979.hp1 | ABCA9 | chr17 | 68969488 | 69065927 |
| 69044600 | - | 5 | 0.9787 | 0.9785 | 0.9777 | 0.0010 | donor | a0002 | HG01255.hp1 HG03654.hp1 HG04204.hp1 NA18962.hp2 NA19070.hp2 others(1): Show |
HG01517.hp2 HG01975.hp1 |
ABCA9 | chr17 | 68969488 | 69065927 |
| 69043489 | - | 6 | -0.3182 | -0.3031 | -0.2910 | 0.0272 | acceptor | a0002 | HG00408.hp2 HG02602.hp2 HG03491.hp2 |
HG03490.hp2 | ABCA9 | chr17 | 68969488 | 69065927 |
| 69043715 | - | 6 | 0.9300 | 0.9284 | 0.9220 | 0.0080 | donor | a0002 | HG01175.hp1 | NA18979.hp1 | ABCA9 | chr17 | 68969488 | 69065927 |
| 69035660 | - | 7 | -0.9982 | -0.9982 | -0.9981 | 0.0001 | acceptor | a0002 | HG02074.hp2 | HG00438.hp1 HG00639.hp1 HG00642.hp1 HG01167.hp1 HG01952.hp1 others(10): Show |
ABCA9 | chr17 | 68969488 | 69065927 |
| 69035801 | - | 7 | 0.9986 | 0.9985 | 0.9985 | 0.0001 | donor | a0002 | HG02602.hp2 HG03491.hp2 NA18954.hp1 NA19060.hp1 NA19082.hp1 |
HG00438.hp1 HG00642.hp1 HG01952.hp1 HG02004.hp1 HG02080.hp2 others(6): Show |
ABCA9 | chr17 | 68969488 | 69065927 |
| 69035246 | - | 8 | -0.7782 | -0.7711 | -0.7662 | 0.0120 | acceptor | a0002 | NA19067.hp1 | HG00733.hp2 HG01071.hp2 HG01099.hp1 HG01192.hp1 |
ABCA9 | chr17 | 68969488 | 69065927 |
| 69035431 | - | 8 | 0.7953 | 0.7906 | 0.7875 | 0.0077 | donor | a0002 | HG03654.hp1 | NA19080.hp1 | ABCA9 | chr17 | 68969488 | 69065927 |
| 69033726 | - | 9 | -0.9739 | -0.9735 | -0.9727 | 0.0012 | acceptor | a0002 | HG02074.hp2 HG02083.hp2 HG02155.hp1 NA18957.hp1 NA18969.hp1 others(2): Show |
NA19080.hp1 | ABCA9 | chr17 | 68969488 | 69065927 |
| 69033873 | - | 9 | 0.9881 | 0.9878 | 0.9878 | 0.0003 | donor | a0002 | HG03654.hp1 HG03942.hp2 |
HG00438.hp1 HG00642.hp1 HG01952.hp1 HG02004.hp1 HG02080.hp2 others(4): Show |
ABCA9 | chr17 | 68969488 | 69065927 |
| 69032108 | - | 10 | -0.6317 | -0.5071 | -0.4864 | 0.1453 | acceptor | a0002 | HG03654.hp1 | NA19030.hp1 | ABCA9 | chr17 | 68969488 | 69065927 |
| 69032276 | - | 10 | 0.3390 | 0.2246 | 0.1691 | 0.1700 | donor | a0002 | HG02074.hp2 HG02083.hp2 HG02155.hp1 HG04228.hp2 NA18957.hp1 others(5): Show |
HG01175.hp1 | ABCA9 | chr17 | 68969488 | 69065927 |
| 69029169 | - | 11 | -0.9777 | -0.9721 | -0.9680 | 0.0097 | acceptor | a0002 | HG00408.hp2 | HG02071.hp2 NA19067.hp1 |
ABCA9 | chr17 | 68969488 | 69065927 |
| 69029227 | - | 11 | 0.9719 | 0.9715 | 0.9668 | 0.0050 | donor | a0002 | HG02970.hp2 HG03130.hp2 |
HG02071.hp2 NA19067.hp1 |
ABCA9 | chr17 | 68969488 | 69065927 |
| 69028535 | - | 12 | -0.8877 | -0.8816 | -0.6579 | 0.2298 | acceptor | a0002 | HG02970.hp2 HG03130.hp2 |
HG02071.hp2 | ABCA9 | chr17 | 68969488 | 69065927 |
| 69028645 | - | 12 | 0.8897 | 0.8878 | 0.6532 | 0.2365 | donor | a0002 | NA18946.hp2 NA19012.hp2 |
HG02071.hp2 NA19067.hp1 |
ABCA9 | chr17 | 68969488 | 69065927 |
| 69027640 | - | 13 | -0.9976 | -0.9975 | -0.9975 | 0.0001 | acceptor | a0002 | NA19067.hp1 | HG02970.hp2 HG03130.hp2 |
ABCA9 | chr17 | 68969488 | 69065927 |
| 69027815 | - | 13 | 0.9973 | 0.9973 | 0.9972 | 0.0002 | donor | a0002 | HG01255.hp2 | HG02071.hp2 NA19067.hp1 |
ABCA9 | chr17 | 68969488 | 69065927 |
| 69027330 | - | 14 | -0.9887 | -0.9886 | -0.9883 | 0.0004 | acceptor | a0002 | HG04199.hp2 | HG02071.hp2 | ABCA9 | chr17 | 68969488 | 69065927 |
| 69027449 | - | 14 | 0.9859 | 0.9857 | 0.9855 | 0.0004 | donor | a0002 | HG04199.hp2 | HG00642.hp1 | ABCA9 | chr17 | 68969488 | 69065927 |
| 69026976 | - | 15 | -0.9745 | -0.9744 | -0.9740 | 0.0004 | acceptor | a0002 | HG02004.hp1 | NA19067.hp1 | ABCA9 | chr17 | 68969488 | 69065927 |
| 69027114 | - | 15 | 0.9793 | 0.9792 | 0.9783 | 0.0010 | donor | a0002 | HG02004.hp1 | HG02071.hp2 | ABCA9 | chr17 | 68969488 | 69065927 |
| 69026377 | - | 16 | -0.9053 | -0.9034 | -0.8993 | 0.0060 | acceptor | a0002 | HG04199.hp2 | HG00642.hp1 | ABCA9 | chr17 | 68969488 | 69065927 |
| 69026467 | - | 16 | 0.8763 | 0.8749 | 0.8603 | 0.0160 | donor | a0002 | NA19067.hp1 | HG00642.hp1 | ABCA9 | chr17 | 68969488 | 69065927 |
| 69024214 | - | 17 | -0.9706 | -0.9700 | -0.9654 | 0.0052 | acceptor | a0002 | NA19030.hp1 | NA18990.hp1 | ABCA9 | chr17 | 68969488 | 69065927 |
| 69024353 | - | 17 | 0.9908 | 0.9904 | 0.9899 | 0.0010 | donor | a0002 | HG01192.hp1 HG01192.hp2 HG01975.hp1 NA20300.hp1 |
NA18953.hp2 NA19091.hp1 |
ABCA9 | chr17 | 68969488 | 69065927 |
| 69021742 | - | 18 | -0.9980 | -0.9979 | -0.9977 | 0.0003 | acceptor | a0002 | HG02145.hp2 | HG02970.hp2 HG03130.hp2 |
ABCA9 | chr17 | 68969488 | 69065927 |
| 69021861 | - | 18 | 0.9980 | 0.9977 | 0.9973 | 0.0007 | donor | a0002 | HG01192.hp1 HG01192.hp2 HG01975.hp1 NA20300.hp1 |
HG02970.hp2 HG03130.hp2 |
ABCA9 | chr17 | 68969488 | 69065927 |
| 69020388 | - | 19 | -0.9951 | -0.9951 | -0.9951 | 0.0001 | acceptor | a0002 | NA18990.hp1 | HG02970.hp2 HG03130.hp2 |
ABCA9 | chr17 | 68969488 | 69065927 |
| 69020586 | - | 19 | 0.9956 | 0.9955 | 0.9954 | 0.0002 | donor | a0002 | NA19002.hp1 | HG02970.hp2 HG03130.hp2 |
ABCA9 | chr17 | 68969488 | 69065927 |
| 69018413 | - | 20 | -0.9420 | -0.9416 | -0.9397 | 0.0023 | acceptor | a0002 | HG02083.hp2 | NA19002.hp1 | ABCA9 | chr17 | 68969488 | 69065927 |
| 69018579 | - | 20 | 0.8751 | 0.8743 | 0.8664 | 0.0087 | donor | a0002 | HG01069.hp2 HG02083.hp2 |
NA19002.hp1 | ABCA9 | chr17 | 68969488 | 69065927 |
| 69017656 | - | 21 | -0.9974 | -0.9967 | -0.9967 | 0.0008 | acceptor | a0002 | NA19002.hp1 | HG02083.hp2 | ABCA9 | chr17 | 68969488 | 69065927 |
| 69017789 | - | 21 | 0.9979 | 0.9968 | 0.9967 | 0.0012 | donor | a0002 | NA19002.hp1 | HG00140.hp1 HG00544.hp1 NA18954.hp1 NA19060.hp1 NA19082.hp1 others(1): Show |
ABCA9 | chr17 | 68969488 | 69065927 |
| 69016253 | - | 22 | -0.9988 | -0.9985 | -0.9981 | 0.0007 | acceptor | a0002 | HG00140.hp1 NA19067.hp1 |
HG02074.hp2 NA18957.hp1 NA18967.hp2 NA18969.hp1 NA18979.hp2 others(1): Show |
ABCA9 | chr17 | 68969488 | 69065927 |
| 69016390 | - | 22 | 0.9881 | 0.9876 | 0.9868 | 0.0013 | donor | a0002 | HG02004.hp1 | HG02083.hp2 | ABCA9 | chr17 | 68969488 | 69065927 |
| 69011976 | - | 23 | -0.3515 | -0.3063 | -0.2717 | 0.0797 | acceptor | a0002 | HG04228.hp1 | NA19067.hp1 | ABCA9 | chr17 | 68969488 | 69065927 |
| 69012083 | - | 23 | 0.1987 | 0.1749 | 0.1741 | 0.0247 | donor | a0002 | HG04228.hp1 | HG01346.hp2 | ABCA9 | chr17 | 68969488 | 69065927 |
| 69008062 | - | 24 | -0.4567 | -0.4360 | -0.4276 | 0.0291 | acceptor | a0002 | HG02970.hp2 HG03130.hp2 |
HG00408.hp2 | ABCA9 | chr17 | 68969488 | 69065927 |
| 69008235 | - | 24 | 0.5515 | 0.5235 | 0.5158 | 0.0357 | donor | a0002 | HG02970.hp2 HG03130.hp2 |
HG00408.hp2 | ABCA9 | chr17 | 68969488 | 69065927 |
| 69007759 | - | 25 | -0.6308 | -0.5176 | -0.5131 | 0.1177 | acceptor | a0002 | HG01516.hp2 | HG04199.hp2 | ABCA9 | chr17 | 68969488 | 69065927 |
| 69007872 | - | 25 | 0.5665 | 0.4312 | 0.4201 | 0.1464 | donor | a0002 | HG01516.hp2 | HG00408.hp2 | ABCA9 | chr17 | 68969488 | 69065927 |
| 68995895 | - | 26 | -0.9871 | -0.9825 | -0.9814 | 0.0057 | acceptor | a0002 | HG02071.hp2 | HG00099.hp2 | ABCA9 | chr17 | 68969488 | 69065927 |
| 68996014 | - | 26 | 0.9576 | 0.9570 | 0.9469 | 0.0107 | donor | a0002 | HG02738.hp2 | NA18979.hp1 | ABCA9 | chr17 | 68969488 | 69065927 |
| 68993016 | - | 27 | -0.7181 | -0.6942 | -0.6936 | 0.0246 | acceptor | a0002 | NA18980.hp1 | HG04228.hp2 | ABCA9 | chr17 | 68969488 | 69065927 |
| 68993084 | - | 27 | 0.8806 | 0.8767 | 0.8372 | 0.0435 | donor | a0002 | HG02071.hp2 | HG01255.hp1 | ABCA9 | chr17 | 68969488 | 69065927 |
| 68992175 | - | 28 | -0.6884 | -0.6685 | -0.6620 | 0.0264 | acceptor | a0002 | NA18980.hp1 | NA18979.hp1 | ABCA9 | chr17 | 68969488 | 69065927 |
| 68992266 | - | 28 | 0.6182 | 0.6138 | 0.5981 | 0.0201 | donor | a0002 | NA19067.hp1 | NA18967.hp2 | ABCA9 | chr17 | 68969488 | 69065927 |
| 68990837 | - | 29 | -0.9924 | -0.9913 | -0.9909 | 0.0015 | acceptor | a0002 | NA18953.hp2 NA19091.hp2 |
HG03927.hp1 | ABCA9 | chr17 | 68969488 | 69065927 |
| 68990957 | - | 29 | 0.9929 | 0.9927 | 0.9923 | 0.0006 | donor | a0002 | NA19082.hp1 | HG01255.hp2 | ABCA9 | chr17 | 68969488 | 69065927 |
| 68989813 | - | 30 | -0.7777 | -0.7304 | -0.6915 | 0.0862 | acceptor | a0002 | NA18953.hp2 NA19091.hp2 |
HG02071.hp2 NA19074.hp2 |
ABCA9 | chr17 | 68969488 | 69065927 |
| 68989930 | - | 30 | 0.8391 | 0.8149 | 0.7931 | 0.0460 | donor | a0002 | HG01255.hp2 | HG03490.hp2 | ABCA9 | chr17 | 68969488 | 69065927 |
| 68989027 | - | 31 | -0.9856 | -0.9779 | -0.9651 | 0.0206 | acceptor | a0002 | NA18953.hp2 NA19091.hp2 |
HG03927.hp1 | ABCA9 | chr17 | 68969488 | 69065927 |
| 68989118 | - | 31 | 0.9602 | 0.9311 | 0.8845 | 0.0757 | donor | a0002 | HG01071.hp2 HG01175.hp1 |
HG02135.hp1 | ABCA9 | chr17 | 68969488 | 69065927 |
| 68986164 | - | 32 | -0.8043 | -0.7995 | -0.6641 | 0.1403 | acceptor | a0002 | NA19083.hp2 | HG03490.hp2 | ABCA9 | chr17 | 68969488 | 69065927 |
| 68986324 | - | 32 | 0.8710 | 0.8689 | 0.7452 | 0.1258 | donor | a0002 | NA18962.hp2 NA18979.hp1 NA19011.hp2 NA19068.hp2 |
HG03490.hp2 | ABCA9 | chr17 | 68969488 | 69065927 |
| 68985053 | - | 33 | -0.9974 | -0.9973 | -0.9970 | 0.0003 | acceptor | a0002 | NA19054.hp2 | HG03490.hp2 | ABCA9 | chr17 | 68969488 | 69065927 |
| 68985128 | - | 33 | 0.9970 | 0.9969 | 0.9964 | 0.0006 | donor | a0002 | NA19054.hp2 | HG03490.hp2 | ABCA9 | chr17 | 68969488 | 69065927 |
| 68984885 | - | 34 | -0.9035 | -0.9024 | -0.8966 | 0.0069 | acceptor | a0002 | NA19083.hp2 | HG03490.hp2 | ABCA9 | chr17 | 68969488 | 69065927 |
| 68984979 | - | 34 | 0.8194 | 0.8188 | 0.8170 | 0.0024 | donor | a0002 | NA19054.hp2 | HG03490.hp2 | ABCA9 | chr17 | 68969488 | 69065927 |
| 68984056 | - | 35 | -0.9984 | -0.9984 | -0.9982 | 0.0002 | acceptor | a0002 | HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00438.hp1 HG00544.hp1 others(94): Show |
HG01192.hp2 | ABCA9 | chr17 | 68969488 | 69065927 |
| 68984175 | - | 35 | 0.9965 | 0.9965 | 0.9963 | 0.0002 | donor | a0002 | HG01081.hp1 HG03139.hp2 NA18949.hp1 |
NA19054.hp2 | ABCA9 | chr17 | 68969488 | 69065927 |
| 68983709 | - | 36 | -0.9980 | -0.9979 | -0.9979 | 0.0000 | acceptor | a0002 | HG00408.hp2 HG01081.hp1 HG03139.hp2 NA18949.hp1 NA18968.hp2 others(1): Show |
HG03490.hp2 | ABCA9 | chr17 | 68969488 | 69065927 |
| 68983849 | - | 36 | 0.9969 | 0.9969 | 0.9968 | 0.0001 | donor | a0002 | NA18993.hp2 | HG00733.hp2 HG02040.hp2 HG02074.hp2 HG02080.hp2 HG02135.hp1 others(6): Show |
ABCA9 | chr17 | 68969488 | 69065927 |
| 68982562 | - | 37 | -0.9487 | -0.9454 | -0.9426 | 0.0061 | acceptor | a0002 | NA18962.hp2 NA18979.hp1 NA18987.hp2 NA19011.hp2 NA19068.hp2 others(1): Show |
HG01192.hp2 | ABCA9 | chr17 | 68969488 | 69065927 |
| 68982641 | - | 37 | 0.9706 | 0.9694 | 0.9693 | 0.0013 | donor | a0002 | HG00733.hp2 HG02040.hp2 HG02074.hp2 HG02080.hp2 HG02135.hp1 others(6): Show |
HG03654.hp1 | ABCA9 | chr17 | 68969488 | 69065927 |
| 68976135 | - | 38 | -0.9365 | -0.9354 | -0.9331 | 0.0034 | acceptor | a0002 | NA19090.hp2 | HG00639.hp1 HG01074.hp2 |
ABCA9 | chr17 | 68969488 | 69065927 |
| 68976190 | - | 38 | 0.9401 | 0.9393 | 0.9385 | 0.0015 | donor | a0002 | HG01952.hp1 | HG01081.hp1 HG01169.hp1 HG03540.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1 |
ABCA9 | chr17 | 68969488 | 69065927 |
| 68976013 | - | 39 | 0.9869 | 0.9867 | 0.9866 | 0.0003 | donor | a0002 | HG00099.hp2 NA21309.hp2 |
HG00639.hp1 HG01074.hp2 |
ABCA9 | chr17 | 68969488 | 69065927 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 69007825:splice 69007825:variant goto | c.3369T>Cp.Tyr1123Tyr | 2648158 | Likely_benign | ABCA9:10350 ABCA9-AS1:104355297 |
SO:0001819 synonymous_variant |
MedGen:C3661900|MedGen:CN169374 | - | 1 | 1 | 1 | 1 | a0002 | a0002c0027 | a0002c0027t0002 | a0002c0027t0002g0069 | HG01516.hp2 | LOW | chr17 | A | G | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr17:69045467
|
c.305-131A>G | Corneal resistance factor0.06025 | a0001a0002a0014a0015a0021 | a0001c0001a0001c0007a0001c0029a0002c0002a0002c0004others(3): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0009a0001c0001t0011a0001c0001t0012others(7): Show | a0001c0001t0001g0007a0001c0001t0001g0162a0001c0001t0001g0166a0001c0001t0001g0168a0001c0001t0001g0169others(83): Show | HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 others(85): Show |
Fine-mapping and cell-specific enrichment at corne others(74): Show |
76,029 white-British ancestry individuals/10,130 n others(37): Show |
ABCA9 | rs9789083-T | - | MODIFIER | chr17 | T | C | |
|
chr17:69045467
|
c.305-131A>G | Corneal resistance factor (MTAG)0.027199 | a0001a0002a0014a0015a0021 | a0001c0001a0001c0007a0001c0029a0002c0002a0002c0004others(3): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0009a0001c0001t0011a0001c0001t0012others(7): Show | a0001c0001t0001g0007a0001c0001t0001g0162a0001c0001t0001g0166a0001c0001t0001g0168a0001c0001t0001g0169others(83): Show | HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 others(85): Show |
Association of Novel Loci With Keratoconus Suscept others(122): Show |
123,734 European ancestry individuals/ | ABCA9 | rs9789083-T | - | MODIFIER | chr17 | T | C | |
|
chr17:68975757
|
c.*158G>A |
Gestational age at birth (child effect)1 others(3): Show |
a0002a0006a0013a0014a0015others(2): Show | a0002c0002a0002c0004a0002c0026a0002c0027a0002c0028others(6): Show | a0002c0002t0002a0002c0002t0007a0002c0004t0002a0002c0026t0002a0002c0027t0002others(7): Show | a0002c0002t0002g0002a0002c0002t0002g0005a0002c0002t0002g0006a0002c0002t0002g0011a0002c0002t0002g0059others(109): Show | HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00408.hp2 HG00438.hp1 others(113): Show |
Risk of spontaneous preterm birth and fetal growth others(29): Show |
666 Finnish ancestry infants/ | ABCA9 | ABCA9-AS1, ABCA9 | rs11077860-T | - | MODIFIER | chr17 | C | T |