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rs377357931

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs377357931(C;T)
Make rs377357931(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position109760253
GeneFIG4
is asnp
is mentioned by
dbSNPrs377357931
dbSNP (classic)rs377357931
ClinGenrs377357931
ebirs377357931
HLIrs377357931
Exacrs377357931
Gnomadrs377357931
Varsomers377357931
LitVarrs377357931
Maprs377357931
PheGenIrs377357931
Biobankrs377357931
1000 genomesrs377357931
hgdprs377357931
ensemblrs377357931
geneviewrs377357931
scholarrs377357931
googlers377357931
pharmgkbrs377357931
gwascentralrs377357931
openSNPrs377357931
23andMers377357931
SNPshotrs377357931
SNPdbers377357931
MSV3drs377357931
GWAS Ctlgrs377357931
Max Magnitude0
ClinVar
Risk rs377357931(T;T)
Alt rs377357931(T;T)
Reference Rs377357931(C;C)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease
Variation info
Gene FIG4
CLNDBN Charcot-Marie-Tooth disease, type 4J
Reversed 0
HGVS NC_000006.11:g.110081456C>T
CLNSRC Quest Diagnostics
CLNACC RCV000201166.1,