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rs121918658

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121918658(G;G)
Make rs121918658(G;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position133352074
GeneSURF1
is asnp
is mentioned by
dbSNPrs121918658
ebirs121918658
HLIrs121918658
Exacrs121918658
Varsomers121918658
Maprs121918658
PheGenIrs121918658
hapmaprs121918658
1000 genomesrs121918658
hgdprs121918658
ensemblrs121918658
gopubmedrs121918658
geneviewrs121918658
scholarrs121918658
googlers121918658
pharmgkbrs121918658
gwascentralrs121918658
openSNPrs121918658
23andMers121918658
23andMe allrs121918658
SNP Nexus

SNPshotrs121918658
SNPdbers121918658
MSV3drs121918658
GWAS Ctlgrs121918658
Max Magnitude0
OMIM185620
Desc
Variant0010
Relatedalso
ClinVar
Risk rs121918658(G;G)
Alt rs121918658(G;G)
Reference rs121918658(T;T)
Significance Pathogenic
Disease Congenital myasthenic syndrome
Variation info
Gene SURF1
CLNDBN Congenital myasthenic syndrome, acetazolamide-responsive
Reversed 1
HGVS NC_000009.11:g.136218929A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000013603.17,