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rs587776544

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs587776544(-;-)
Make rs587776544(-;C)
Make rs587776544(C;C)
ReferenceGRCh38 38.1/142
Chromosome5
Position138951264
GeneSIL1
is asnp
is mentioned by
dbSNPrs587776544
ebirs587776544
HLIrs587776544
Exacrs587776544
Varsomers587776544
Maprs587776544
PheGenIrs587776544
hapmaprs587776544
1000 genomesrs587776544
hgdprs587776544
ensemblrs587776544
gopubmedrs587776544
geneviewrs587776544
scholarrs587776544
googlers587776544
pharmgkbrs587776544
gwascentralrs587776544
openSNPrs587776544
23andMers587776544
23andMe allrs587776544
SNP Nexus

SNPshotrs587776544
SNPdbers587776544
MSV3drs587776544
GWAS Ctlgrs587776544
Max Magnitude0
ClinVar
Risk rs587776544(C;C)
Alt rs587776544(C;C)
Reference rs587776544(;)
Significance Pathogenic
Disease Marinesco-Sjögren syndrome
Variation info
Gene SIL1
CLNDBN Marinesco-Sjögren syndrome
Reversed 0
HGVS NC_000005.9:g.138286953dupC
CLNSRC OMIM Allelic Variant
CLNACC RCV000002747.5,