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rs119456966

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs119456966(C;T)
Make rs119456966(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position138947191
GeneSIL1
is asnp
is mentioned by
dbSNPrs119456966
ebirs119456966
HLIrs119456966
Exacrs119456966
Varsomers119456966
Maprs119456966
PheGenIrs119456966
hapmaprs119456966
1000 genomesrs119456966
hgdprs119456966
ensemblrs119456966
gopubmedrs119456966
geneviewrs119456966
scholarrs119456966
googlers119456966
pharmgkbrs119456966
gwascentralrs119456966
openSNPrs119456966
23andMers119456966
23andMe allrs119456966
SNP Nexus

SNPshotrs119456966
SNPdbers119456966
MSV3drs119456966
GWAS Ctlgrs119456966
Max Magnitude0
OMIM608005
Desc
Variant0006
Relatedalso
ClinVar
Risk rs119456966(T;T)
Alt rs119456966(T;T)
Reference rs119456966(C;C)
Significance Pathogenic
Disease Marinesco-Sjögren syndrome not provided
Variation info
Gene SIL1
CLNDBN Marinesco-Sjögren syndrome not provided
Reversed 1
HGVS NC_000005.9:g.138282880G>A
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000002745.3, RCV000082150.4,