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rs121918657

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918657(C;T)
Make rs121918657(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position133352446
GeneSURF1
is asnp
is mentioned by
dbSNPrs121918657
ebirs121918657
HLIrs121918657
Exacrs121918657
Varsomers121918657
Maprs121918657
PheGenIrs121918657
hapmaprs121918657
1000 genomesrs121918657
hgdprs121918657
ensemblrs121918657
gopubmedrs121918657
geneviewrs121918657
scholarrs121918657
googlers121918657
pharmgkbrs121918657
gwascentralrs121918657
openSNPrs121918657
23andMers121918657
23andMe allrs121918657
SNP Nexus

SNPshotrs121918657
SNPdbers121918657
MSV3drs121918657
GWAS Ctlgrs121918657
Max Magnitude0
OMIM185620
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121918657(T;T)
Alt rs121918657(T;T)
Reference rs121918657(C;C)
Significance Pathogenic
Disease Congenital myasthenic syndrome
Variation info
Gene SURF1
CLNDBN Congenital myasthenic syndrome, acetazolamide-responsive
Reversed 1
HGVS NC_000009.11:g.136219301G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000013599.17,