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rs869320725

From SNPedia

Orientationminus
Geno Mag Summary
(GAAGA;GAAGA) 0 common in clinvar
Make rs869320725(-;-)
Make rs869320725(-;GAAGA)
ReferenceGRCh38.p2 38.2/147
Chromosome5
Position139026839
GeneSIL1
is asnp
is mentioned by
dbSNPrs869320725
ebirs869320725
HLIrs869320725
Exacrs869320725
Varsomers869320725
Maprs869320725
PheGenIrs869320725
hapmaprs869320725
1000 genomesrs869320725
hgdprs869320725
ensemblrs869320725
gopubmedrs869320725
geneviewrs869320725
scholarrs869320725
googlers869320725
pharmgkbrs869320725
gwascentralrs869320725
openSNPrs869320725
23andMers869320725
23andMe allrs869320725
SNP Nexus

SNPshotrs869320725
SNPdbers869320725
MSV3drs869320725
GWAS Ctlgrs869320725
Max Magnitude0
ClinVar
Risk rs869320725(;)
Alt rs869320725(;)
Reference rs869320725(GAAGA;GAAGA)
Significance Pathogenic
Disease Marinesco-Sjögren syndrome
Variation info
Gene SIL1
CLNDBN Marinesco-Sjögren syndrome
Reversed 1
HGVS NC_000005.9:g.138362528_138362532delTCTTC
CLNSRC OMIM Allelic Variant
CLNACC RCV000002748.3,