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rs119456965

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs119456965(C;T)
Make rs119456965(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position139050960
GeneSIL1
is asnp
is mentioned by
dbSNPrs119456965
ebirs119456965
HLIrs119456965
Exacrs119456965
Varsomers119456965
Maprs119456965
PheGenIrs119456965
hapmaprs119456965
1000 genomesrs119456965
hgdprs119456965
ensemblrs119456965
gopubmedrs119456965
geneviewrs119456965
scholarrs119456965
googlers119456965
pharmgkbrs119456965
gwascentralrs119456965
openSNPrs119456965
23andMers119456965
23andMe allrs119456965
SNP Nexus

SNPshotrs119456965
SNPdbers119456965
MSV3drs119456965
GWAS Ctlgrs119456965
Max Magnitude0
OMIM608005
Desc
Variant0004
Relatedalso
ClinVar
Risk rs119456965(T;T)
Alt rs119456965(T;T)
Reference rs119456965(C;C)
Significance Pathogenic
Disease Marinesco-Sjögren syndrome
Variation info
Gene SIL1
CLNDBN Marinesco-Sjögren syndrome
Reversed 1
HGVS NC_000005.9:g.138386649G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002743.4,