rs877098

Homo sapiens
A>G
GJB6 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A==0448 (13386/29876,GnomAD)
A==0430 (12528/29118,TOPMED)
A==0400 (2004/5008,1000G)
A==0450 (1733/3854,ALSPAC)
A==0435 (1614/3708,TWINSUK)
chr13:20224101 (GRCh38.p7) (13q12.11)
AD
GWASdb2
3   publication(s)
See rs on genome
15 Enhancers around
37 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 13NC_000013.11:g.20224101A>G
GRCh37.p13 chr 13NC_000013.10:g.20798240A>G
GJB6 RefSeqGeneNG_008323.1:g.13295T>C

Gene: GJB6, gap junction protein beta 6(minus strand)

Molecule type Change Amino acid[Codon] SO Term
GJB6 transcript variant 1NM_001110219.2:c.N/AIntron Variant
GJB6 transcript variant 2NM_001110220.2:c.N/AIntron Variant
GJB6 transcript variant 4NM_001110221.2:c.N/AIntron Variant
GJB6 transcript variant 3NM_006783.4:c.N/AIntron Variant
GJB6 transcript variant X1XM_017020357.1:c.N/AIntron Variant
GJB6 transcript variant X2XM_017020358.1:c.N/AIntron Variant
GJB6 transcript variant X3XM_017020359.1:c.N/AIntron Variant
GJB6 transcript variant X4XM_017020360.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.446G=0.554
1000GenomesAmericanSub694A=0.310G=0.690
1000GenomesEast AsianSub1008A=0.321G=0.679
1000GenomesEuropeSub1006A=0.502G=0.498
1000GenomesGlobalStudy-wide5008A=0.400G=0.600
1000GenomesSouth AsianSub978A=0.380G=0.620
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.450G=0.550
The Genome Aggregation DatabaseAfricanSub8698A=0.425G=0.575
The Genome Aggregation DatabaseAmericanSub838A=0.280G=0.720
The Genome Aggregation DatabaseEast AsianSub1600A=0.329G=0.671
The Genome Aggregation DatabaseEuropeSub18438A=0.477G=0.522
The Genome Aggregation DatabaseGlobalStudy-wide29876A=0.448G=0.551
The Genome Aggregation DatabaseOtherSub302A=0.420G=0.580
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.430G=0.569
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.435G=0.565
PMID Title Author Journal
21910243Did the GJB2 35delG mutation originate in Iran?Norouzi VAm J Med Genet A
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res
20812880The search of a genetic basis for noise-induced hearing loss (NIHL).Abreu-Silva RSAnn Hum Biol

P-Value

SNP ID p-value Traits Study
rs8770980.000591alcohol dependence21314694

eQTL of rs877098 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 rs877098 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 )
chr132074873620749998E068-48242
chr132075210320752572E068-45668
chr132084441320844493E06946173
chr132084477420844897E06946534
chr132075014620750351E070-47889
chr132077116120772142E072-26098
chr132075613820756210E074-42030
chr132075628220756888E074-41352
chr132084477420844897E07446534
chr132075102120751254E081-46986
chr132075140220751498E081-46742
chr132075210320752572E081-45668
chr132075924920759904E081-38336
chr132075996620760122E081-38118
chr132076013220760386E081-37854






Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr132076573920767215E067-31025
chr132080463220804672E0676392
chr132080537020806022E0677130
chr132076573920767215E068-31025
chr132076729520767389E068-30851
chr132076740920767642E068-30598
chr132080351220803615E0685272
chr132080537020806022E0687130
chr132080602920806632E0687789
chr132076573920767215E069-31025
chr132076729520767389E069-30851
chr132080351220803615E0695272
chr132076573920767215E070-31025
chr132076573920767215E071-31025
chr132076729520767389E071-30851
chr132076740920767642E071-30598
chr132080463220804672E0716392
chr132080537020806022E0717130
chr132080602920806632E0717789
chr132080664620806807E0718406
chr132076573920767215E072-31025
chr132076729520767389E072-30851
chr132080463220804672E0726392
chr132080537020806022E0727130
chr132080602920806632E0727789
chr132076573920767215E073-31025
chr132076729520767389E073-30851
chr132080233020802381E0734090
chr132080537020806022E0737130
chr132076573920767215E074-31025
chr132076729520767389E074-30851
chr132076740920767642E074-30598
chr132080463220804672E0746392
chr132080537020806022E0747130
chr132076573920767215E082-31025
chr132076729520767389E082-30851
chr132080664620806807E0828406