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rs548535414

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs548535414(A;G)
Make rs548535414(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position139026799
GeneSIL1
is asnp
is mentioned by
dbSNPrs548535414
ebirs548535414
HLIrs548535414
Exacrs548535414
Varsomers548535414
Maprs548535414
PheGenIrs548535414
hapmaprs548535414
1000 genomesrs548535414
hgdprs548535414
ensemblrs548535414
gopubmedrs548535414
geneviewrs548535414
scholarrs548535414
googlers548535414
pharmgkbrs548535414
gwascentralrs548535414
openSNPrs548535414
23andMers548535414
23andMe allrs548535414
SNP Nexus

SNPshotrs548535414
SNPdbers548535414
MSV3drs548535414
GWAS Ctlgrs548535414
Max Magnitude0
ClinVar
Risk rs548535414(G;G)
Alt rs548535414(G;G)
Reference rs548535414(A;A)
Significance Pathogenic
Disease Marinesco-Sjögren syndrome
Variation info
Gene SIL1
CLNDBN Marinesco-Sjögren syndrome
Reversed 0
HGVS NC_000005.9:g.138362488A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000002742.4,