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rs782316919

From SNPedia

Orientationplus
Make rs782316919(-;-)
Make rs782316919(-;AG)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position133351970
GeneSURF1
is asnp
is mentioned by
dbSNPrs782316919
ebirs782316919
HLIrs782316919
Exacrs782316919
Varsomers782316919
Maprs782316919
PheGenIrs782316919
hapmaprs782316919
1000 genomesrs782316919
hgdprs782316919
ensemblrs782316919
gopubmedrs782316919
geneviewrs782316919
scholarrs782316919
googlers782316919
pharmgkbrs782316919
gwascentralrs782316919
openSNPrs782316919
23andMers782316919
23andMe allrs782316919
SNP Nexus

SNPshotrs782316919
SNPdbers782316919
MSV3drs782316919
GWAS Ctlgrs782316919
Max Magnitude
ClinVar
Risk rs782316919(;)
Alt rs782316919(;)
Reference rs782316919(AG;AG)
Significance Pathogenic
Disease Congenital myasthenic syndrome not provided
Variation info
Gene SURF1
CLNDBN Congenital myasthenic syndrome, acetazolamide-responsive not provided
Reversed 0
HGVS NC_000009.11:g.136218825_136218826delAG
CLNSRC OMIM Allelic Variant
CLNACC RCV000013608.22, RCV000197896.1,