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rs864622215

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs864622215(C;C)
Make rs864622215(C;G)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position71224351
GeneGJB1
is asnp
is mentioned by
dbSNPrs864622215
ebirs864622215
HLIrs864622215
Exacrs864622215
Varsomers864622215
Maprs864622215
PheGenIrs864622215
hapmaprs864622215
1000 genomesrs864622215
hgdprs864622215
ensemblrs864622215
gopubmedrs864622215
geneviewrs864622215
scholarrs864622215
googlers864622215
pharmgkbrs864622215
gwascentralrs864622215
openSNPrs864622215
23andMers864622215
23andMe allrs864622215
SNP Nexus

SNPshotrs864622215
SNPdbers864622215
MSV3drs864622215
GWAS Ctlgrs864622215
Max Magnitude0
ClinVar
Risk rs864622215(C;C)
Alt rs864622215(C;C)
Reference rs864622215(G;G)
Significance Probable-Pathogenic
Disease Charcot-Marie-Tooth Neuropathy X not provided
Variation info
Gene GJB1
CLNDBN Charcot-Marie-Tooth Neuropathy X not provided
Reversed 0
HGVS NC_000023.10:g.70444201G>C
CLNSRC
CLNACC RCV000205076.1, RCV000236627.1,