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rs863224974

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs863224974(A;A)
Make rs863224974(A;G)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position71223751
GeneGJB1
is asnp
is mentioned by
dbSNPrs863224974
ebirs863224974
HLIrs863224974
Exacrs863224974
Varsomers863224974
Maprs863224974
PheGenIrs863224974
hapmaprs863224974
1000 genomesrs863224974
hgdprs863224974
ensemblrs863224974
gopubmedrs863224974
geneviewrs863224974
scholarrs863224974
googlers863224974
pharmgkbrs863224974
gwascentralrs863224974
openSNPrs863224974
23andMers863224974
23andMe allrs863224974
SNP Nexus

SNPshotrs863224974
SNPdbers863224974
MSV3drs863224974
GWAS Ctlgrs863224974
Max Magnitude0
ClinVar
Risk rs863224974(A;A)
Alt rs863224974(A;A)
Reference rs863224974(G;G)
Significance Pathogenic
Disease X-linked hereditary motor and sensory neuropathy Charcot-Marie-Tooth Neuropathy X not provided
Variation info
Gene GJB1
CLNDBN X-linked hereditary motor and sensory neuropathy Charcot-Marie-Tooth Neuropathy X not provided
Reversed 0
HGVS NC_000023.10:g.70443601G>A
CLNSRC Quest Diagnostics
CLNACC RCV000201093.1, RCV000234336.1, RCV000235929.1,