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rs770612890

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs770612890(-;-)
Make rs770612890(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position20223418
GeneGJB6
is asnp
is mentioned by
dbSNPrs770612890
dbSNP (classic)rs770612890
ClinGenrs770612890
ebirs770612890
HLIrs770612890
Exacrs770612890
Gnomadrs770612890
Varsomers770612890
LitVarrs770612890
Maprs770612890
PheGenIrs770612890
Biobankrs770612890
1000 genomesrs770612890
hgdprs770612890
ensemblrs770612890
geneviewrs770612890
scholarrs770612890
googlers770612890
pharmgkbrs770612890
gwascentralrs770612890
openSNPrs770612890
23andMers770612890
SNPshotrs770612890
SNPdbers770612890
MSV3drs770612890
GWAS Ctlgrs770612890
Max Magnitude0
ClinVar
Risk rs770612890(-;-)
Alt rs770612890(-;-)
Reference Rs770612890(C;C)
Significance Probable-Pathogenic
Disease GJB6-related disorders Hidrotic ectodermal dysplasia syndrome not provided
Variation info
Gene GJB6
CLNDBN GJB6-related disorders Hidrotic ectodermal dysplasia syndrome not provided
Reversed 0
HGVS NC_000013.10:g.20797557delC
CLNSRC
CLNACC RCV000354367.1, RCV000409500.1, RCV000440483.1,