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rs774441811

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs774441811(A;A)
Make rs774441811(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position139026986
GeneSIL1
is asnp
is mentioned by
dbSNPrs774441811
dbSNP (classic)rs774441811
ClinGenrs774441811
ebirs774441811
HLIrs774441811
Exacrs774441811
Gnomadrs774441811
Varsomers774441811
LitVarrs774441811
Maprs774441811
PheGenIrs774441811
Biobankrs774441811
1000 genomesrs774441811
hgdprs774441811
ensemblrs774441811
geneviewrs774441811
scholarrs774441811
googlers774441811
pharmgkbrs774441811
gwascentralrs774441811
openSNPrs774441811
23andMers774441811
SNPshotrs774441811
SNPdbers774441811
MSV3drs774441811
GWAS Ctlgrs774441811
Max Magnitude0
ClinVar
Risk rs774441811(A;A)
Alt rs774441811(A;A)
Reference Rs774441811(G;G)
Significance Pathogenic
Disease Marinesco-Sjögren syndrome
Variation info
Gene SIL1
CLNDBN Marinesco-Sjögren syndrome
Reversed 0
HGVS NC_000005.9:g.138362675G>A
CLNSRC
CLNACC RCV000179525.1,