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rs1057518946

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057518946(G;T)
Make rs1057518946(T;T)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position71223816
GeneGJB1
is asnp
is mentioned by
dbSNPrs1057518946
dbSNP (old)rs1057518946
ClinGenrs1057518946
ebirs1057518946
HLIrs1057518946
Exacrs1057518946
Gnomadrs1057518946
Varsomers1057518946
Maprs1057518946
PheGenIrs1057518946
Biobankrs1057518946
1000 genomesrs1057518946
hgdprs1057518946
ensemblrs1057518946
gopubmedrs1057518946
geneviewrs1057518946
scholarrs1057518946
googlers1057518946
pharmgkbrs1057518946
gwascentralrs1057518946
openSNPrs1057518946
23andMers1057518946
23andMe allrs1057518946
SNPshotrs1057518946
SNPdbers1057518946
MSV3drs1057518946
GWAS Ctlgrs1057518946
Max Magnitude0
ClinVar
Risk rs1057518946(T;T)
Alt rs1057518946(T;T)
Reference Rs1057518946(G;G)
Significance Probable-Pathogenic
Disease Achilles tendon contracture Distal sensory impairment Hammertoe Pain Progressive distal muscle weakness Progressive distal muscular atrophy Reduced tendon reflexes Talipes cavus equinovarus
Variation info
Gene GJB1
CLNDBN Achilles tendon contracture Distal sensory impairment Hammertoe Pain Progressive distal muscle weakness Progressive distal muscular atrophy Reduced tendon reflexes Talipes cavus equinovarus
Reversed 0
HGVS NC_000023.10:g.70443666G>T
CLNSRC
CLNACC RCV000415308.1,