Have questions? Visit https://www.reddit.com/r/SNPedia

rs777752978

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs777752978(C;T)
Make rs777752978(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position138951170
GeneSIL1
is asnp
is mentioned by
dbSNPrs777752978
ebirs777752978
HLIrs777752978
Exacrs777752978
Varsomers777752978
Maprs777752978
PheGenIrs777752978
hapmaprs777752978
1000 genomesrs777752978
hgdprs777752978
ensemblrs777752978
gopubmedrs777752978
geneviewrs777752978
scholarrs777752978
googlers777752978
pharmgkbrs777752978
gwascentralrs777752978
openSNPrs777752978
23andMers777752978
23andMe allrs777752978
SNP Nexus

SNPshotrs777752978
SNPdbers777752978
MSV3drs777752978
GWAS Ctlgrs777752978
Max Magnitude0
ClinVar
Risk rs777752978(T;T)
Alt rs777752978(T;T)
Reference rs777752978(C;C)
Significance Pathogenic
Disease Marinesco-Sjögren syndrome
Variation info
Gene SIL1
CLNDBN Marinesco-Sjögren syndrome
Reversed 0
HGVS NC_000005.9:g.138286859C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002744.4,