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rs587777714

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587777714(A;A)
Make rs587777714(A;G)
ReferenceGRCh38 38.1/142
Chromosome6
Position109743137
GeneFIG4
is asnp
is mentioned by
dbSNPrs587777714
dbSNP (classic)rs587777714
ClinGenrs587777714
ebirs587777714
HLIrs587777714
Exacrs587777714
Gnomadrs587777714
Varsomers587777714
LitVarrs587777714
Maprs587777714
PheGenIrs587777714
Biobankrs587777714
1000 genomesrs587777714
hgdprs587777714
ensemblrs587777714
geneviewrs587777714
scholarrs587777714
googlers587777714
pharmgkbrs587777714
gwascentralrs587777714
openSNPrs587777714
23andMers587777714
SNPshotrs587777714
SNPdbers587777714
MSV3drs587777714
GWAS Ctlgrs587777714
Max Magnitude0
ClinVar
Risk rs587777714(A;A)
Alt rs587777714(A;A)
Reference Rs587777714(G;G)
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.110064340G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000144072.4,