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rs370115218

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs370115218(G;T)
Make rs370115218(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position149012634
GeneSH3TC2
is asnp
is mentioned by
dbSNPrs370115218
dbSNP (classic)rs370115218
ClinGenrs370115218
ebirs370115218
HLIrs370115218
Exacrs370115218
Gnomadrs370115218
Varsomers370115218
LitVarrs370115218
Maprs370115218
PheGenIrs370115218
Biobankrs370115218
1000 genomesrs370115218
hgdprs370115218
ensemblrs370115218
geneviewrs370115218
scholarrs370115218
googlers370115218
pharmgkbrs370115218
gwascentralrs370115218
openSNPrs370115218
23andMers370115218
SNPshotrs370115218
SNPdbers370115218
MSV3drs370115218
GWAS Ctlgrs370115218
Max Magnitude0
ClinVar
Risk rs370115218(A;A) rs370115218(T;T)
Alt rs370115218(A;A) rs370115218(T;T)
Reference Rs370115218(G;G)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease
Variation info
Gene SH3TC2
CLNDBN Charcot-Marie-Tooth disease, type IV
Reversed 0
HGVS NC_000005.9:g.148392197G>A
CLNSRC
CLNACC RCV000204837.1,