rs10037701

Homo sapiens
C>T
SPINK14 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0394 (11772/29844,GnomAD)
T=0366 (10667/29118,TOPMED)
T=0286 (1434/5008,1000G)
T=0490 (1890/3854,ALSPAC)
C==0496 (1841/3708,TWINSUK)
chr5:148161600 (GRCh38.p7) (5q32)
AD
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.148161600C>T
GRCh37.p13 chr 5NC_000005.9:g.147541163C>T

Gene: SPINK14, serine peptidase inhibitor, Kazal type 14 (putative)(plus strand)

Molecule type Change Amino acid[Codon] SO Term
SPINK14 transcriptNM_001001325.2:c.N/AGenic Upstream Transcript Variant
SPINK14 transcript variant X3XM_017009466.1:c.N/AIntron Variant
SPINK14 transcript variant X4XM_017009468.1:c.N/AIntron Variant
SPINK14 transcript variant X1XM_017009469.1:c.N/AGenic Upstream Transcript Variant
SPINK14 transcript variant X1XM_017009467.1:c.N/AGenic Downstream Transcript Variant
SPINK14 transcript variant X2XR_944398.2:n.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.809T=0.191
1000GenomesAmericanSub694C=0.660T=0.340
1000GenomesEast AsianSub1008C=0.914T=0.086
1000GenomesEuropeSub1006C=0.476T=0.524
1000GenomesGlobalStudy-wide5008C=0.714T=0.286
1000GenomesSouth AsianSub978C=0.660T=0.340
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.510T=0.490
The Genome Aggregation DatabaseAfricanSub8708C=0.753T=0.247
The Genome Aggregation DatabaseAmericanSub828C=0.680T=0.320
The Genome Aggregation DatabaseEast AsianSub1618C=0.895T=0.105
The Genome Aggregation DatabaseEuropeSub18388C=0.509T=0.490
The Genome Aggregation DatabaseGlobalStudy-wide29844C=0.605T=0.394
The Genome Aggregation DatabaseOtherSub302C=0.430T=0.570
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.633T=0.366
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.496T=0.504
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs100377010.000715alcohol dependence20201924

eQTL of rs10037701 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 rs10037701 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.