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rs782726390

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs782726390(C;C)
Make rs782726390(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position133354959
GeneSURF1, SURF2
is asnp
is mentioned by
dbSNPrs782726390
dbSNP (classic)rs782726390
ClinGenrs782726390
ebirs782726390
HLIrs782726390
Exacrs782726390
Gnomadrs782726390
Varsomers782726390
LitVarrs782726390
Maprs782726390
PheGenIrs782726390
Biobankrs782726390
1000 genomesrs782726390
hgdprs782726390
ensemblrs782726390
geneviewrs782726390
scholarrs782726390
googlers782726390
pharmgkbrs782726390
gwascentralrs782726390
openSNPrs782726390
23andMers782726390
SNPshotrs782726390
SNPdbers782726390
MSV3drs782726390
GWAS Ctlgrs782726390
Max Magnitude0
ClinVar
Risk rs782726390(C;C)
Alt rs782726390(C;C)
Reference Rs782726390(T;T)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease
Variation info
Gene SURF2 SURF1
CLNDBN Charcot-Marie-Tooth disease, type 4k
Reversed 0
HGVS NC_000009.11:g.136221814T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000202482.1,