rs10412487

Homo sapiens
T>C
MUC16 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0293 (8778/29936,GnomAD)
C=0240 (6995/29118,TOPMED)
C=0245 (1225/5008,1000G)
C=0374 (1440/3854,ALSPAC)
C=0376 (1393/3708,TWINSUK)
chr19:8862541 (GRCh38.p7) (19p13.2)
AD
GWASdb2
1   publication(s)
See rs on genome
6 Enhancers around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 19NC_000019.10:g.8862541T>C
GRCh37.p13 chr 19NC_000019.9:g.8973217T>C

Gene: MUC16, mucin 16, cell surface associated(minus strand)

Molecule type Change Amino acid[Codon] SO Term
MUC16 transcriptNM_024690.2:c.N/AIntron Variant
MUC16 transcript variant X1XM_017027486.1:c.N/AIntron Variant
MUC16 transcript variant X2XM_017027487.1:c.N/AIntron Variant
MUC16 transcript variant X3XM_017027488.1:c.N/AIntron Variant
MUC16 transcript variant X4XM_017027489.1:c.N/AIntron Variant
MUC16 transcript variant X5XM_017027490.1:c.N/AIntron Variant
MUC16 transcript variant X6XM_017027491.1:c.N/AIntron Variant
MUC16 transcript variant X7XM_017027492.1:c.N/AIntron Variant
MUC16 transcript variant X8XM_017027493.1:c.N/AIntron Variant
MUC16 transcript variant X9XM_017027494.1:c.N/AIntron Variant
MUC16 transcript variant X10XM_017027495.1:c.N/AIntron Variant
MUC16 transcript variant X11XM_017027496.1:c.N/AIntron Variant
MUC16 transcript variant X12XM_017027497.1:c.N/AIntron Variant
MUC16 transcript variant X11XM_017027499.1:c.N/AIntron Variant
MUC16 transcript variant X12XM_017027500.1:c.N/AIntron Variant
MUC16 transcript variant X13XM_017027501.1:c.N/AIntron Variant
MUC16 transcript variant X13XM_017027498.1:c.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.927C=0.073
1000GenomesAmericanSub694T=0.650C=0.350
1000GenomesEast AsianSub1008T=0.746C=0.254
1000GenomesEuropeSub1006T=0.626C=0.374
1000GenomesGlobalStudy-wide5008T=0.755C=0.245
1000GenomesSouth AsianSub978T=0.740C=0.260
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.626C=0.374
The Genome Aggregation DatabaseAfricanSub8716T=0.882C=0.118
The Genome Aggregation DatabaseAmericanSub834T=0.620C=0.380
The Genome Aggregation DatabaseEast AsianSub1618T=0.727C=0.273
The Genome Aggregation DatabaseEuropeSub18466T=0.626C=0.373
The Genome Aggregation DatabaseGlobalStudy-wide29936T=0.706C=0.293
The Genome Aggregation DatabaseOtherSub302T=0.720C=0.280
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.759C=0.240
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.624C=0.376
PMID Title Author Journal
19581569Genome-wide association study of alcohol dependence.Treutlein JArch Gen Psychiatry

P-Value

SNP ID p-value Traits Study
rs104124875.81E-05alcohol dependence19581569

eQTL of rs10412487 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 rs10412487 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.

Enhancer Annotation (GRCh37.p13)

Chromosome Start End Region Distance ( -/+ : Up/Downstream )
chr1989417748941826E070-31391
chr1989418718941924E070-31293
chr1989417748941826E071-31391
chr1989418718941924E071-31293
chr1989417748941826E073-31391
chr1989418718941924E073-31293



Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr1989421188944115E067-29102
chr1989421188944115E068-29102
chr1989421188944115E069-29102
chr1989441458944311E069-28906
chr1989421188944115E070-29102
chr1989421188944115E071-29102
chr1989441458944311E071-28906
chr1989421188944115E072-29102
chr1989421188944115E073-29102
chr1989421188944115E074-29102
chr1989993878999437E07426170
chr1989994768999549E07426259
chr1989998788999941E07426661
chr1990063819006431E07433164
chr1990065399006622E07433322
chr1990081049008154E07434887
chr1990127299012798E07439512
chr1990155329015613E07442315
chr1989421188944115E082-29102
chr1989441458944311E082-28906