rs10054860

Homo sapiens
T>G
ANKRD31 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0179 (5355/29870,GnomAD)
G=0168 (4898/29118,TOPMED)
G=0231 (1157/5008,1000G)
G=0210 (809/3854,ALSPAC)
G=0215 (798/3708,TWINSUK)
chr5:75150979 (GRCh38.p7) (5q13.3)
CD
GWASdb2
1   publication(s)
See rs on genome
0 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.75150979T>G
GRCh37.p13 chr 5NC_000005.9:g.74446804T>G

Gene: ANKRD31, ankyrin repeat domain 31(minus strand)

Molecule type Change Amino acid[Codon] SO Term
ANKRD31 transcriptNM_001164443.1:c.N/AIntron Variant
ANKRD31 transcript variant X1XM_011543298.2:c.N/AIntron Variant
ANKRD31 transcript variant X2XM_011543299.1:c.N/AIntron Variant
ANKRD31 transcript variant X3XM_011543300.2:c.N/AIntron Variant
ANKRD31 transcript variant X6XM_011543301.2:c.N/AIntron Variant
ANKRD31 transcript variant X9XM_011543302.2:c.N/AIntron Variant
ANKRD31 transcript variant X4XM_017009317.1:c.N/AIntron Variant
ANKRD31 transcript variant X5XM_017009318.1:c.N/AIntron Variant
ANKRD31 transcript variant X8XM_017009319.1:c.N/AIntron Variant
ANKRD31 transcript variant X10XM_017009320.1:c.N/AIntron Variant
ANKRD31 transcript variant X12XM_017009321.1:c.N/AIntron Variant
ANKRD31 transcript variant X11XM_017009322.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.888G=0.112
1000GenomesAmericanSub694T=0.780G=0.220
1000GenomesEast AsianSub1008T=0.808G=0.192
1000GenomesEuropeSub1006T=0.751G=0.249
1000GenomesGlobalStudy-wide5008T=0.769G=0.231
1000GenomesSouth AsianSub978T=0.580G=0.420
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.790G=0.210
The Genome Aggregation DatabaseAfricanSub8712T=0.897G=0.103
The Genome Aggregation DatabaseAmericanSub836T=0.770G=0.230
The Genome Aggregation DatabaseEast AsianSub1586T=0.813G=0.187
The Genome Aggregation DatabaseEuropeSub18434T=0.789G=0.210
The Genome Aggregation DatabaseGlobalStudy-wide29870T=0.820G=0.179
The Genome Aggregation DatabaseOtherSub302T=0.670G=0.330
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.831G=0.168
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.785G=0.215
PMID Title Author Journal
23958962Genome-wide association study of cocaine dependence and related traits: FAM53B identified as a risk gene.Gelernter JMol Psychiatry

P-Value

SNP ID p-value Traits Study
rs100548602.53E-06cocaine dependence23958962

eQTL of rs10054860 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
There is no eQTL annotation for this SNP

meQTL of rs10054860 in Fetal Brain

Probe ID Position Gene beta p-value
There is no meQTL annotation for this SNP

Genomic View

Chromatin Interaction

There is no significant Hi-C chromatin interaction data for this SNP.