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rs119456967

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs119456967(C;C)
Make rs119456967(C;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position138947133
GeneSIL1
is asnp
is mentioned by
dbSNPrs119456967
ebirs119456967
HLIrs119456967
Exacrs119456967
Varsomers119456967
Maprs119456967
PheGenIrs119456967
hapmaprs119456967
1000 genomesrs119456967
hgdprs119456967
ensemblrs119456967
gopubmedrs119456967
geneviewrs119456967
scholarrs119456967
googlers119456967
pharmgkbrs119456967
gwascentralrs119456967
openSNPrs119456967
23andMers119456967
23andMe allrs119456967
SNP Nexus

SNPshotrs119456967
SNPdbers119456967
MSV3drs119456967
GWAS Ctlgrs119456967
Max Magnitude0
OMIM608005
Desc
Variant0007
Relatedalso
ClinVar
Risk rs119456967(C;C)
Alt rs119456967(C;C)
Reference rs119456967(T;T)
Significance Pathogenic
Disease Marinesco-Sjögren syndrome
Variation info
Gene SIL1
CLNDBN Marinesco-Sjögren syndrome
Reversed 1
HGVS NC_000005.9:g.138282822A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000002746.4,