Have questions? Visit https://www.reddit.com/r/SNPedia

rs782190413

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs782190413(A;A)
Make rs782190413(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position133352708
GeneSURF1
is asnp
is mentioned by
dbSNPrs782190413
dbSNP (classic)rs782190413
ClinGenrs782190413
ebirs782190413
HLIrs782190413
Exacrs782190413
Gnomadrs782190413
Varsomers782190413
LitVarrs782190413
Maprs782190413
PheGenIrs782190413
Biobankrs782190413
1000 genomesrs782190413
hgdprs782190413
ensemblrs782190413
geneviewrs782190413
scholarrs782190413
googlers782190413
pharmgkbrs782190413
gwascentralrs782190413
openSNPrs782190413
23andMers782190413
SNPshotrs782190413
SNPdbers782190413
MSV3drs782190413
GWAS Ctlgrs782190413
Max Magnitude0
ClinVar
Risk rs782190413(A;A)
Alt rs782190413(A;A)
Reference Rs782190413(G;G)
Significance Pathogenic
Disease not provided Charcot-Marie-Tooth disease
Variation info
Gene SURF1
CLNDBN not provided Charcot-Marie-Tooth disease, type 4k
Reversed 0
HGVS NC_000009.11:g.136219563G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000199387.2, RCV000202523.1,