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rs786200895

From SNPedia

Orientationplus
Geno Mag Summary
(ACG;ACG) 0 common in clinvar
Make rs786200895(-;-)
Make rs786200895(-;GAC)
Make rs786200895(GAC;GAC)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position34784958
GeneGJB3, LOC105378643
is asnp
is mentioned by
dbSNPrs786200895
ebirs786200895
HLIrs786200895
Exacrs786200895
Varsomers786200895
Maprs786200895
PheGenIrs786200895
hapmaprs786200895
1000 genomesrs786200895
hgdprs786200895
ensemblrs786200895
gopubmedrs786200895
geneviewrs786200895
scholarrs786200895
googlers786200895
pharmgkbrs786200895
gwascentralrs786200895
openSNPrs786200895
23andMers786200895
23andMe allrs786200895
SNP Nexus

SNPshotrs786200895
SNPdbers786200895
MSV3drs786200895
GWAS Ctlgrs786200895
Max Magnitude0
ClinVar
Risk rs786200895(;)
Alt rs786200895(;)
Reference rs786200895(ACG;ACG)
Significance Pathogenic
Disease Deafness
Variation info
Gene GJB3
CLNDBN Deafness, autosomal dominant, with peripheral neuropathy
Reversed 0
HGVS NC_000001.10:g.35250559_35250561delGAC
CLNSRC OMIM Allelic Variant
CLNACC RCV000006863.4,