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rs398122806

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(T;T) 0 common in clinvar
Make rs398122806(A;G)
Make rs398122806(G;G)
ReferenceGRCh37.p10 37.5/138
Chromosome9
Position133352518
GeneSURF1
is asnp
is mentioned by
dbSNPrs398122806
ebirs398122806
HLIrs398122806
Exacrs398122806
Varsomers398122806
Maprs398122806
PheGenIrs398122806
hapmaprs398122806
1000 genomesrs398122806
hgdprs398122806
ensemblrs398122806
gopubmedrs398122806
geneviewrs398122806
scholarrs398122806
googlers398122806
pharmgkbrs398122806
gwascentralrs398122806
openSNPrs398122806
23andMers398122806
23andMe allrs398122806
SNP Nexus

SNPshotrs398122806
SNPdbers398122806
MSV3drs398122806
GWAS Ctlgrs398122806
Max Magnitude0
ClinVar
Risk rs398122806(C;C)
Alt rs398122806(C;C)
Reference rs398122806(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.136219373A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000022780.25,