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rs794726659

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794726659(A;A)
Make rs794726659(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position139026800
GeneSIL1
is asnp
is mentioned by
dbSNPrs794726659
ebirs794726659
HLIrs794726659
Exacrs794726659
Varsomers794726659
Maprs794726659
PheGenIrs794726659
hapmaprs794726659
1000 genomesrs794726659
hgdprs794726659
ensemblrs794726659
gopubmedrs794726659
geneviewrs794726659
scholarrs794726659
googlers794726659
pharmgkbrs794726659
gwascentralrs794726659
openSNPrs794726659
23andMers794726659
23andMe allrs794726659
SNP Nexus

SNPshotrs794726659
SNPdbers794726659
MSV3drs794726659
GWAS Ctlgrs794726659
Max Magnitude0
ClinVar
Risk rs794726659(A;A)
Alt rs794726659(A;A)
Reference rs794726659(G;G)
Significance Pathogenic
Disease Marinesco-Sjögren syndrome
Variation info
Gene SIL1
CLNDBN Marinesco-Sjögren syndrome
Reversed 1
HGVS NC_000005.9:g.138362489C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002741.4,