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rs116840823

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs116840823(-;-)
Make rs116840823(-;ACCGTCTTC)
Make rs116840823(ACCGTCTTC;ACCGTCTTC)
ReferenceGRCh38 38.1/141
ChromosomeX
Position71224286
GeneGJB1
is asnp
is mentioned by
dbSNPrs116840823
ebirs116840823
HLIrs116840823
Exacrs116840823
Varsomers116840823
Maprs116840823
PheGenIrs116840823
hapmaprs116840823
1000 genomesrs116840823
hgdprs116840823
ensemblrs116840823
gopubmedrs116840823
geneviewrs116840823
scholarrs116840823
googlers116840823
pharmgkbrs116840823
gwascentralrs116840823
openSNPrs116840823
23andMers116840823
23andMe allrs116840823
SNP Nexus

SNPshotrs116840823
SNPdbers116840823
MSV3drs116840823
GWAS Ctlgrs116840823
Max Magnitude0
ClinVar
Risk rs116840823(ACCGTCTTC;ACCGTCTTC)
Alt rs116840823(ACCGTCTTC;ACCGTCTTC)
Reference rs116840823(;)
Significance Pathogenic
Disease X-linked hereditary motor and sensory neuropathy
Variation info
Gene GJB1
CLNDBN X-linked hereditary motor and sensory neuropathy
Reversed 0
HGVS NC_000023.10:g.70444128_70444136dupACCGTCTTC
CLNSRC ClinVar GeneReviews
CLNACC RCV000020177.1,