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rs1057518780

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057518780(G;G)
Make rs1057518780(G;T)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position71224209
GeneGJB1
is asnp
is mentioned by
dbSNPrs1057518780
dbSNP (old)rs1057518780
ClinGenrs1057518780
ebirs1057518780
HLIrs1057518780
Exacrs1057518780
Gnomadrs1057518780
Varsomers1057518780
LitVarrs1057518780
Maprs1057518780
PheGenIrs1057518780
Biobankrs1057518780
1000 genomesrs1057518780
hgdprs1057518780
ensemblrs1057518780
gopubmedrs1057518780
geneviewrs1057518780
scholarrs1057518780
googlers1057518780
pharmgkbrs1057518780
gwascentralrs1057518780
openSNPrs1057518780
23andMers1057518780
23andMe allrs1057518780
SNPshotrs1057518780
SNPdbers1057518780
MSV3drs1057518780
GWAS Ctlgrs1057518780
Max Magnitude0
ClinVar
Risk rs1057518780(G;G)
Alt rs1057518780(G;G)
Reference Rs1057518780(T;T)
Significance Probable-Pathogenic
Disease Distal lower limb muscle weakness Hand muscle atrophy Peroneal muscle atrophy Pes cavus Decreased nerve conduction velocity Distal muscle weakness Hammertoe Sensory neuropathy
Variation info
Gene GJB1
CLNDBN Distal lower limb muscle weakness Hand muscle atrophy Peroneal muscle atrophy Pes cavus Decreased nerve conduction velocity Distal muscle weakness Hammertoe Sensory neuropathy
Reversed 0
HGVS NC_000023.10:g.70444059T>G
CLNSRC
CLNACC RCV000414760.1, RCV000415205.1,