rs6417935

Homo sapiens
T>C
KLF8 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0117 (2447/20849,GnomAD)
T==0138 (522/3775,1000G)
T==0142 (526/3708,TWINSUK)
T==0136 (394/2889,ALSPAC)
chrX:55934291 (GRCh38.p7) (Xp11.21)
AD
GWASdb2
1   publication(s)
See rs on genome
2 Enhancers around
29 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr XNC_000023.11:g.55934291T>C
GRCh37.p13 chr XNC_000023.10:g.55960724T>C
KLF8 RefSeqGeneNG_011949.2:g.31169T>C

Gene: KLF8, Kruppel-like factor 8(plus strand)

Molecule type Change Amino acid[Codon] SO Term
KLF8 transcript variant 8NM_001324104.1:c.N/AIntron Variant
KLF8 transcript variant 9NM_001324105.1:c.N/AIntron Variant
KLF8 transcript variant 2NM_001159296.2:c.N/AGenic Upstream Transcript Variant
KLF8 transcript variant 3NM_001324099.1:c.N/AGenic Upstream Transcript Variant
KLF8 transcript variant 4NM_001324100.1:c.N/AGenic Upstream Transcript Variant
KLF8 transcript variant 5NM_001324102.1:c.N/AGenic Upstream Transcript Variant
KLF8 transcript variant 1NM_007250.5:c.N/AGenic Upstream Transcript Variant
KLF8 transcript variant 6NR_136704.1:n.N/AGenic Upstream Transcript Variant
KLF8 transcript variant 7NR_136705.1:n.N/AGenic Upstream Transcript Variant
KLF8 transcript variant X1XM_005261977.2:c.N/AGenic Upstream Transcript Variant
KLF8 transcript variant X2XM_005261979.3:c.N/AGenic Upstream Transcript Variant
KLF8 transcript variant X4XM_006724575.2:c.N/AGenic Upstream Transcript Variant
KLF8 transcript variant X6XM_006724576.3:c.N/AGenic Upstream Transcript Variant
KLF8 transcript variant X2XM_011530759.2:c.N/AGenic Upstream Transcript Variant
KLF8 transcript variant X4XM_017029250.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1003T=0.016C=0.984
1000GenomesAmericanSub524T=0.370C=0.630
1000GenomesEast AsianSub764T=0.110C=0.890
1000GenomesEuropeSub766T=0.170C=0.830
1000GenomesGlobalStudy-wide3775T=0.138C=0.862
1000GenomesSouth AsianSub718T=0.140C=0.860
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide2889T=0.136C=0.864
The Genome Aggregation DatabaseAfricanSub5896T=0.030C=0.970
The Genome Aggregation DatabaseAmericanSub612T=0.420C=0.580
The Genome Aggregation DatabaseEast AsianSub1008T=0.115C=0.885
The Genome Aggregation DatabaseEuropeSub13146T=0.140C=0.859
The Genome Aggregation DatabaseGlobalStudy-wide20849T=0.117C=0.882
The Genome Aggregation DatabaseOtherSub187T=0.280C=0.720
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.142C=0.858
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
rs64179350.000879alcohol dependence20201924

eQTL of rs6417935 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 rs6417935 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 )
chrX5593401955934083E069-26641
chrX5593401955934083E072-26641


Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chrX5593415055934214E067-26510
chrX5593425655935681E067-25043
chrX5593570155935790E067-24934
chrX5593415055934214E068-26510
chrX5593425655935681E068-25043
chrX5593570155935790E068-24934
chrX5593589255935984E068-24740
chrX5593425655935681E069-25043
chrX5593570155935790E069-24934
chrX5593415055934214E070-26510
chrX5593425655935681E070-25043
chrX5593570155935790E070-24934
chrX5593589255935984E070-24740
chrX5593415055934214E071-26510
chrX5593425655935681E071-25043
chrX5593570155935790E071-24934
chrX5593425655935681E072-25043
chrX5593570155935790E072-24934
chrX5593589255935984E072-24740
chrX5593425655935681E073-25043
chrX5593570155935790E073-24934
chrX5593425655935681E074-25043
chrX5593570155935790E074-24934
chrX5593415055934214E081-26510
chrX5593425655935681E081-25043
chrX5593415055934214E082-26510
chrX5593425655935681E082-25043
chrX5593570155935790E082-24934
chrX5593589255935984E082-24740