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rs863224971

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs863224971(C;T)
Make rs863224971(T;T)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position71223249
GeneGJB1
is asnp
is mentioned by
dbSNPrs863224971
dbSNP (old)rs863224971
ClinGenrs863224971
ebirs863224971
HLIrs863224971
Exacrs863224971
Gnomadrs863224971
Varsomers863224971
Maprs863224971
PheGenIrs863224971
Biobankrs863224971
1000 genomesrs863224971
hgdprs863224971
ensemblrs863224971
gopubmedrs863224971
geneviewrs863224971
scholarrs863224971
googlers863224971
pharmgkbrs863224971
gwascentralrs863224971
openSNPrs863224971
23andMers863224971
23andMe allrs863224971
SNP Nexus

SNPshotrs863224971
SNPdbers863224971
MSV3drs863224971
GWAS Ctlgrs863224971
Max Magnitude0
[PMID 27569544OA-icon.png] A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease. This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
ClinVar
Risk rs863224971(T;T)
Alt rs863224971(T;T)
Reference Rs863224971(C;C)
Significance Pathogenic
Disease X-linked hereditary motor and sensory neuropathy Charcot-Marie-Tooth Neuropathy X
Variation info
Gene GJB1
CLNDBN X-linked hereditary motor and sensory neuropathy Charcot-Marie-Tooth Neuropathy X
Reversed 0
HGVS NC_000023.10:g.70443099C>T
CLNSRC Quest Diagnostics
CLNACC RCV000201088.1, RCV000228634.2,