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rs776221160

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs776221160(C;T)
Make rs776221160(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position149047862
GeneSH3TC2
is asnp
is mentioned by
dbSNPrs776221160
dbSNP (classic)rs776221160
ClinGenrs776221160
ebirs776221160
HLIrs776221160
Exacrs776221160
Gnomadrs776221160
Varsomers776221160
LitVarrs776221160
Maprs776221160
PheGenIrs776221160
Biobankrs776221160
1000 genomesrs776221160
hgdprs776221160
ensemblrs776221160
geneviewrs776221160
scholarrs776221160
googlers776221160
pharmgkbrs776221160
gwascentralrs776221160
openSNPrs776221160
23andMers776221160
SNPshotrs776221160
SNPdbers776221160
MSV3drs776221160
GWAS Ctlgrs776221160
Max Magnitude0
ClinVar
Risk rs776221160(T;T)
Alt rs776221160(T;T)
Reference Rs776221160(C;C)
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.148427425C>T
CLNSRC
CLNACC RCV000200652.1,