Sequence Name | Change(s) |
---|---|
GRCh38.p7 chr 8 | NC_000008.11:g.123686935A>G |
GRCh37.p13 chr 8 | NC_000008.10:g.124699175A>G |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
ANXA13 transcript variant 2 | NM_001003954.2:c. | N/A | Intron Variant |
ANXA13 transcript variant 1 | NM_004306.3:c. | N/A | Intron Variant |
Study | Population | Group | Sample # | Ref Allele | Alt Allele |
---|---|---|---|---|---|
1000Genomes | African | Sub | 1322 | A=0.760 | G=0.240 |
1000Genomes | American | Sub | 694 | A=0.650 | G=0.350 |
1000Genomes | East Asian | Sub | 1008 | A=0.698 | G=0.302 |
1000Genomes | Europe | Sub | 1006 | A=0.595 | G=0.405 |
1000Genomes | Global | Study-wide | 5008 | A=0.684 | G=0.316 |
1000Genomes | South Asian | Sub | 978 | A=0.680 | G=0.320 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | A=0.622 | G=0.378 |
The Genome Aggregation Database | African | Sub | 8674 | A=0.741 | G=0.259 |
The Genome Aggregation Database | American | Sub | 838 | A=0.650 | G=0.350 |
The Genome Aggregation Database | East Asian | Sub | 1620 | A=0.702 | G=0.298 |
The Genome Aggregation Database | Europe | Sub | 18400 | A=0.607 | G=0.392 |
The Genome Aggregation Database | Global | Study-wide | 29832 | A=0.652 | G=0.347 |
The Genome Aggregation Database | Other | Sub | 300 | A=0.580 | G=0.420 |
Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | A=0.668 | G=0.331 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | A=0.629 | G=0.371 |
PMID | Title | Author | Journal |
---|---|---|---|
21314694 | Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample. | Kendler KS | Alcohol Clin Exp Res |
26768247 | A substitution mutation in cardiac ubiquitin ligase, FBXO32, is associated with an autosomal recessive form of dilated cardiomyopathy. | Al-Hassnan ZN | BMC Med Genet |
SNP ID | p-value | Traits | Study |
---|---|---|---|
rs17256536 | 0.000959 | alcohol dependence | 21314694 |
Position (v37) | eGene | GeneID | Variant | p-value | TSS | Tissue | |
---|---|---|---|---|---|---|---|
There is no eQTL annotation for this SNP |
Probe ID | Position | Gene | beta | p-value | |||
---|---|---|---|---|---|---|---|
There is no meQTL annotation for this SNP |
There is no significant Hi-C chromatin interaction data for this SNP.
Chromosome | Start | End | Region | Distance ( -/+ : Up/Downstream ) |
---|---|---|---|---|
chr8 | 124656075 | 124656727 | E067 | -42448 |
chr8 | 124656768 | 124656930 | E067 | -42245 |
chr8 | 124665437 | 124667049 | E067 | -32126 |
chr8 | 124667062 | 124667358 | E067 | -31817 |
chr8 | 124670228 | 124670359 | E067 | -28816 |
chr8 | 124670430 | 124671040 | E067 | -28135 |
chr8 | 124681186 | 124681972 | E067 | -17203 |
chr8 | 124683087 | 124684027 | E067 | -15148 |
chr8 | 124684042 | 124684272 | E067 | -14903 |
chr8 | 124696681 | 124697067 | E067 | -2108 |
chr8 | 124697069 | 124697130 | E067 | -2045 |
chr8 | 124697297 | 124697498 | E067 | -1677 |
chr8 | 124697555 | 124698275 | E067 | -900 |
chr8 | 124704952 | 124706904 | E067 | 5777 |
chr8 | 124717456 | 124717781 | E067 | 18281 |
chr8 | 124717786 | 124717933 | E067 | 18611 |
chr8 | 124718124 | 124718178 | E067 | 18949 |
chr8 | 124718181 | 124718255 | E067 | 19006 |
chr8 | 124725144 | 124725460 | E067 | 25969 |
chr8 | 124725711 | 124725778 | E067 | 26536 |
chr8 | 124726342 | 124726662 | E067 | 27167 |
chr8 | 124726745 | 124726836 | E067 | 27570 |
chr8 | 124726923 | 124727024 | E067 | 27748 |
chr8 | 124728680 | 124729413 | E067 | 29505 |
chr8 | 124730622 | 124730903 | E067 | 31447 |
chr8 | 124730923 | 124731530 | E067 | 31748 |
chr8 | 124731611 | 124732739 | E067 | 32436 |
chr8 | 124741930 | 124741980 | E067 | 42755 |
chr8 | 124670228 | 124670359 | E068 | -28816 |
chr8 | 124670430 | 124671040 | E068 | -28135 |
chr8 | 124681186 | 124681972 | E068 | -17203 |
chr8 | 124683087 | 124684027 | E068 | -15148 |
chr8 | 124699154 | 124699224 | E068 | 0 |
chr8 | 124699293 | 124700284 | E068 | 118 |
chr8 | 124701553 | 124703167 | E068 | 2378 |
chr8 | 124703211 | 124703599 | E068 | 4036 |
chr8 | 124704952 | 124706904 | E068 | 5777 |
chr8 | 124717786 | 124717933 | E068 | 18611 |
chr8 | 124718124 | 124718178 | E068 | 18949 |
chr8 | 124718181 | 124718255 | E068 | 19006 |
chr8 | 124718339 | 124718466 | E068 | 19164 |
chr8 | 124725144 | 124725460 | E068 | 25969 |
chr8 | 124725711 | 124725778 | E068 | 26536 |
chr8 | 124726342 | 124726662 | E068 | 27167 |
chr8 | 124726745 | 124726836 | E068 | 27570 |
chr8 | 124726923 | 124727024 | E068 | 27748 |
chr8 | 124728680 | 124729413 | E068 | 29505 |
chr8 | 124731611 | 124732739 | E068 | 32436 |
chr8 | 124732782 | 124732890 | E068 | 33607 |
chr8 | 124741333 | 124741739 | E068 | 42158 |
chr8 | 124741756 | 124741876 | E068 | 42581 |
chr8 | 124741930 | 124741980 | E068 | 42755 |
chr8 | 124656075 | 124656727 | E069 | -42448 |
chr8 | 124656768 | 124656930 | E069 | -42245 |
chr8 | 124667062 | 124667358 | E069 | -31817 |
chr8 | 124667363 | 124668026 | E069 | -31149 |
chr8 | 124670228 | 124670359 | E069 | -28816 |
chr8 | 124670430 | 124671040 | E069 | -28135 |
chr8 | 124681186 | 124681972 | E069 | -17203 |
chr8 | 124682029 | 124682398 | E069 | -16777 |
chr8 | 124683087 | 124684027 | E069 | -15148 |
chr8 | 124684042 | 124684272 | E069 | -14903 |
chr8 | 124697555 | 124698275 | E069 | -900 |
chr8 | 124698329 | 124698428 | E069 | -747 |
chr8 | 124701553 | 124703167 | E069 | 2378 |
chr8 | 124703211 | 124703599 | E069 | 4036 |
chr8 | 124704089 | 124704942 | E069 | 4914 |
chr8 | 124704952 | 124706904 | E069 | 5777 |
chr8 | 124707221 | 124707281 | E069 | 8046 |
chr8 | 124707355 | 124707395 | E069 | 8180 |
chr8 | 124717786 | 124717933 | E069 | 18611 |
chr8 | 124718124 | 124718178 | E069 | 18949 |
chr8 | 124718181 | 124718255 | E069 | 19006 |
chr8 | 124725144 | 124725460 | E069 | 25969 |
chr8 | 124726342 | 124726662 | E069 | 27167 |
chr8 | 124726745 | 124726836 | E069 | 27570 |
chr8 | 124728680 | 124729413 | E069 | 29505 |
chr8 | 124729989 | 124730170 | E069 | 30814 |
chr8 | 124730269 | 124730319 | E069 | 31094 |
chr8 | 124730329 | 124730437 | E069 | 31154 |
chr8 | 124730622 | 124730903 | E069 | 31447 |
chr8 | 124730923 | 124731530 | E069 | 31748 |
chr8 | 124731611 | 124732739 | E069 | 32436 |
chr8 | 124732782 | 124732890 | E069 | 33607 |
chr8 | 124733054 | 124733440 | E069 | 33879 |
chr8 | 124741756 | 124741876 | E069 | 42581 |
chr8 | 124741930 | 124741980 | E069 | 42755 |
chr8 | 124670030 | 124670173 | E070 | -29002 |
chr8 | 124670228 | 124670359 | E070 | -28816 |
chr8 | 124670430 | 124671040 | E070 | -28135 |
chr8 | 124681186 | 124681972 | E070 | -17203 |
chr8 | 124730923 | 124731530 | E070 | 31748 |
chr8 | 124731611 | 124732739 | E070 | 32436 |
chr8 | 124656075 | 124656727 | E071 | -42448 |
chr8 | 124656768 | 124656930 | E071 | -42245 |
chr8 | 124670030 | 124670173 | E071 | -29002 |
chr8 | 124670228 | 124670359 | E071 | -28816 |
chr8 | 124670430 | 124671040 | E071 | -28135 |
chr8 | 124681186 | 124681972 | E071 | -17203 |
chr8 | 124682029 | 124682398 | E071 | -16777 |
chr8 | 124682467 | 124682559 | E071 | -16616 |
chr8 | 124682606 | 124682872 | E071 | -16303 |
chr8 | 124683087 | 124684027 | E071 | -15148 |
chr8 | 124696405 | 124696621 | E071 | -2554 |
chr8 | 124696681 | 124697067 | E071 | -2108 |
chr8 | 124697555 | 124698275 | E071 | -900 |
chr8 | 124699293 | 124700284 | E071 | 118 |
chr8 | 124701553 | 124703167 | E071 | 2378 |
chr8 | 124703211 | 124703599 | E071 | 4036 |
chr8 | 124703719 | 124703803 | E071 | 4544 |
chr8 | 124703828 | 124703915 | E071 | 4653 |
chr8 | 124704089 | 124704942 | E071 | 4914 |
chr8 | 124704952 | 124706904 | E071 | 5777 |
chr8 | 124712351 | 124712774 | E071 | 13176 |
chr8 | 124725144 | 124725460 | E071 | 25969 |
chr8 | 124725711 | 124725778 | E071 | 26536 |
chr8 | 124726342 | 124726662 | E071 | 27167 |
chr8 | 124726745 | 124726836 | E071 | 27570 |
chr8 | 124726923 | 124727024 | E071 | 27748 |
chr8 | 124727639 | 124728290 | E071 | 28464 |
chr8 | 124728680 | 124729413 | E071 | 29505 |
chr8 | 124730923 | 124731530 | E071 | 31748 |
chr8 | 124731611 | 124732739 | E071 | 32436 |
chr8 | 124741333 | 124741739 | E071 | 42158 |
chr8 | 124741756 | 124741876 | E071 | 42581 |
chr8 | 124741930 | 124741980 | E071 | 42755 |
chr8 | 124656075 | 124656727 | E072 | -42448 |
chr8 | 124664974 | 124665391 | E072 | -33784 |
chr8 | 124667363 | 124668026 | E072 | -31149 |
chr8 | 124670030 | 124670173 | E072 | -29002 |
chr8 | 124670228 | 124670359 | E072 | -28816 |
chr8 | 124670430 | 124671040 | E072 | -28135 |
chr8 | 124681186 | 124681972 | E072 | -17203 |
chr8 | 124682029 | 124682398 | E072 | -16777 |
chr8 | 124684042 | 124684272 | E072 | -14903 |
chr8 | 124699293 | 124700284 | E072 | 118 |
chr8 | 124701553 | 124703167 | E072 | 2378 |
chr8 | 124703211 | 124703599 | E072 | 4036 |
chr8 | 124703719 | 124703803 | E072 | 4544 |
chr8 | 124703828 | 124703915 | E072 | 4653 |
chr8 | 124704089 | 124704942 | E072 | 4914 |
chr8 | 124704952 | 124706904 | E072 | 5777 |
chr8 | 124714800 | 124715016 | E072 | 15625 |
chr8 | 124715076 | 124715142 | E072 | 15901 |
chr8 | 124715155 | 124715205 | E072 | 15980 |
chr8 | 124717456 | 124717781 | E072 | 18281 |
chr8 | 124717786 | 124717933 | E072 | 18611 |
chr8 | 124718124 | 124718178 | E072 | 18949 |
chr8 | 124718181 | 124718255 | E072 | 19006 |
chr8 | 124718339 | 124718466 | E072 | 19164 |
chr8 | 124718885 | 124718925 | E072 | 19710 |
chr8 | 124725144 | 124725460 | E072 | 25969 |
chr8 | 124725711 | 124725778 | E072 | 26536 |
chr8 | 124726342 | 124726662 | E072 | 27167 |
chr8 | 124726745 | 124726836 | E072 | 27570 |
chr8 | 124726923 | 124727024 | E072 | 27748 |
chr8 | 124728680 | 124729413 | E072 | 29505 |
chr8 | 124729989 | 124730170 | E072 | 30814 |
chr8 | 124730269 | 124730319 | E072 | 31094 |
chr8 | 124730329 | 124730437 | E072 | 31154 |
chr8 | 124730622 | 124730903 | E072 | 31447 |
chr8 | 124730923 | 124731530 | E072 | 31748 |
chr8 | 124731611 | 124732739 | E072 | 32436 |
chr8 | 124732782 | 124732890 | E072 | 33607 |
chr8 | 124655671 | 124656070 | E073 | -43105 |
chr8 | 124656075 | 124656727 | E073 | -42448 |
chr8 | 124656768 | 124656930 | E073 | -42245 |
chr8 | 124667062 | 124667358 | E073 | -31817 |
chr8 | 124667363 | 124668026 | E073 | -31149 |
chr8 | 124669638 | 124669758 | E073 | -29417 |
chr8 | 124670228 | 124670359 | E073 | -28816 |
chr8 | 124670430 | 124671040 | E073 | -28135 |
chr8 | 124681186 | 124681972 | E073 | -17203 |
chr8 | 124682029 | 124682398 | E073 | -16777 |
chr8 | 124683087 | 124684027 | E073 | -15148 |
chr8 | 124684042 | 124684272 | E073 | -14903 |
chr8 | 124699293 | 124700284 | E073 | 118 |
chr8 | 124701553 | 124703167 | E073 | 2378 |
chr8 | 124704952 | 124706904 | E073 | 5777 |
chr8 | 124718124 | 124718178 | E073 | 18949 |
chr8 | 124731611 | 124732739 | E073 | 32436 |
chr8 | 124655671 | 124656070 | E074 | -43105 |
chr8 | 124656075 | 124656727 | E074 | -42448 |
chr8 | 124656768 | 124656930 | E074 | -42245 |
chr8 | 124670430 | 124671040 | E074 | -28135 |
chr8 | 124680988 | 124681058 | E074 | -18117 |
chr8 | 124681062 | 124681112 | E074 | -18063 |
chr8 | 124681186 | 124681972 | E074 | -17203 |
chr8 | 124682029 | 124682398 | E074 | -16777 |
chr8 | 124683087 | 124684027 | E074 | -15148 |
chr8 | 124697555 | 124698275 | E074 | -900 |
chr8 | 124699154 | 124699224 | E074 | 0 |
chr8 | 124699293 | 124700284 | E074 | 118 |
chr8 | 124700486 | 124700551 | E074 | 1311 |
chr8 | 124700721 | 124700868 | E074 | 1546 |
chr8 | 124700907 | 124701099 | E074 | 1732 |
chr8 | 124703719 | 124703803 | E074 | 4544 |
chr8 | 124703828 | 124703915 | E074 | 4653 |
chr8 | 124704089 | 124704942 | E074 | 4914 |
chr8 | 124704952 | 124706904 | E074 | 5777 |
chr8 | 124706981 | 124707085 | E074 | 7806 |
chr8 | 124707221 | 124707281 | E074 | 8046 |
chr8 | 124707355 | 124707395 | E074 | 8180 |
chr8 | 124707673 | 124707727 | E074 | 8498 |
chr8 | 124714800 | 124715016 | E074 | 15625 |
chr8 | 124715076 | 124715142 | E074 | 15901 |
chr8 | 124715155 | 124715205 | E074 | 15980 |
chr8 | 124725144 | 124725460 | E074 | 25969 |
chr8 | 124725711 | 124725778 | E074 | 26536 |
chr8 | 124726342 | 124726662 | E074 | 27167 |
chr8 | 124726745 | 124726836 | E074 | 27570 |
chr8 | 124726923 | 124727024 | E074 | 27748 |
chr8 | 124727639 | 124728290 | E074 | 28464 |
chr8 | 124728680 | 124729413 | E074 | 29505 |
chr8 | 124729989 | 124730170 | E074 | 30814 |
chr8 | 124730269 | 124730319 | E074 | 31094 |
chr8 | 124730329 | 124730437 | E074 | 31154 |
chr8 | 124730622 | 124730903 | E074 | 31447 |
chr8 | 124730923 | 124731530 | E074 | 31748 |
chr8 | 124731611 | 124732739 | E074 | 32436 |
chr8 | 124732782 | 124732890 | E074 | 33607 |
chr8 | 124741756 | 124741876 | E074 | 42581 |
chr8 | 124741930 | 124741980 | E074 | 42755 |
chr8 | 124664974 | 124665391 | E081 | -33784 |
chr8 | 124665437 | 124667049 | E081 | -32126 |
chr8 | 124667062 | 124667358 | E081 | -31817 |
chr8 | 124667363 | 124668026 | E081 | -31149 |
chr8 | 124670228 | 124670359 | E081 | -28816 |
chr8 | 124670430 | 124671040 | E081 | -28135 |
chr8 | 124730622 | 124730903 | E081 | 31447 |
chr8 | 124730923 | 124731530 | E081 | 31748 |
chr8 | 124670228 | 124670359 | E082 | -28816 |
chr8 | 124670430 | 124671040 | E082 | -28135 |
chr8 | 124730923 | 124731530 | E082 | 31748 |
chr8 | 124731611 | 124732739 | E082 | 32436 |