rs10511417

Homo sapiens
T>C
MYLK : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0090 (2722/29968,GnomAD)
C=0099 (2889/29118,TOPMED)
C=0205 (1026/5008,1000G)
C=0005 (19/3854,ALSPAC)
C=0003 (12/3708,TWINSUK)
chr3:123816489 (GRCh38.p7) (3q21.1)
AD
GWASdb2
1   publication(s)
See rs on genome
33 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.123816489T>C
GRCh37.p13 chr 3NC_000003.11:g.123535336T>C
MYLK RefSeqGeneNG_029111.1:g.72814A>G

Gene: MYLK, myosin light chain kinase(minus strand)

Molecule type Change Amino acid[Codon] SO Term
MYLK transcript variant 9NM_001321309.1:c.N/AIntron Variant
MYLK transcript variant 1NM_053025.3:c.N/AIntron Variant
MYLK transcript variant 2NM_053026.3:c.N/AIntron Variant
MYLK transcript variant 3ANM_053027.3:c.N/AIntron Variant
MYLK transcript variant 3BNM_053028.3:c.N/AIntron Variant
MYLK transcript variant 7NM_053031.2:c.N/AGenic Upstream Transcript Variant
MYLK transcript variant 8NM_053032.2:c.N/AGenic Upstream Transcript Variant
MYLK transcript variant X1XM_011512860.2:c.N/AGenic Upstream Transcript Variant
MYLK transcript variant X2XM_011512861.2:c.N/AGenic Upstream Transcript Variant
MYLK transcript variant X3XM_017006469.1:c.N/AGenic Upstream Transcript Variant
MYLK transcript variant X4XM_017006470.1:c.N/AGenic Upstream Transcript Variant
MYLK transcript variant X5XM_017006471.1:c.N/AGenic Upstream Transcript Variant
MYLK transcript variant X6XM_017006472.1:c.N/AGenic Upstream Transcript Variant
MYLK transcript variant X13XM_017006473.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.798C=0.202
1000GenomesAmericanSub694T=0.700C=0.300
1000GenomesEast AsianSub1008T=0.542C=0.458
1000GenomesEuropeSub1006T=0.986C=0.014
1000GenomesGlobalStudy-wide5008T=0.795C=0.205
1000GenomesSouth AsianSub978T=0.920C=0.080
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.995C=0.005
The Genome Aggregation DatabaseAfricanSub8722T=0.838C=0.162
The Genome Aggregation DatabaseAmericanSub834T=0.700C=0.300
The Genome Aggregation DatabaseEast AsianSub1618T=0.544C=0.456
The Genome Aggregation DatabaseEuropeSub18492T=0.982C=0.017
The Genome Aggregation DatabaseGlobalStudy-wide29968T=0.909C=0.090
The Genome Aggregation DatabaseOtherSub302T=0.980C=0.020
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.900C=0.099
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.997C=0.003
PMID Title Author Journal

P-Value

SNP ID p-value Traits Study
rs105114175.21E-18alcohol consumptionpha001400

eQTL of rs10511417 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 rs10511417 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 )
chr3123492408123493407E067-41929
chr3123498010123498573E067-36763
chr3123518276123519420E067-15916
chr3123492408123493407E068-41929
chr3123498010123498573E068-36763
chr3123518276123519420E068-15916
chr3123492408123493407E069-41929
chr3123498010123498573E069-36763
chr3123510335123510537E069-24799
chr3123510777123511055E069-24281
chr3123518276123519420E069-15916
chr3123510335123510537E070-24799
chr3123510777123511055E070-24281
chr3123518276123519420E070-15916
chr3123492408123493407E071-41929
chr3123498730123499008E071-36328
chr3123499344123499845E071-35491
chr3123510335123510537E071-24799
chr3123510777123511055E071-24281
chr3123518276123519420E071-15916
chr3123492408123493407E072-41929
chr3123498010123498573E072-36763
chr3123510335123510537E072-24799
chr3123510777123511055E072-24281
chr3123498010123498573E073-36763
chr3123498730123499008E073-36328
chr3123492408123493407E074-41929
chr3123498010123498573E074-36763
chr3123498730123499008E074-36328
chr3123510335123510537E074-24799
chr3123510777123511055E074-24281
chr3123518276123519420E074-15916
chr3123535507123536035E082171