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rs863223316

From SNPedia

Orientationminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs863223316(-;T)
Make rs863223316(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome3
Position155853383
GeneLOC105374174, SLC33A1
is asnp
is mentioned by
dbSNPrs863223316
ClinGenrs863223316
ebirs863223316
HLIrs863223316
Exacrs863223316
Varsomers863223316
Maprs863223316
PheGenIrs863223316
hapmaprs863223316
1000 genomesrs863223316
hgdprs863223316
ensemblrs863223316
gopubmedrs863223316
geneviewrs863223316
scholarrs863223316
googlers863223316
pharmgkbrs863223316
gwascentralrs863223316
openSNPrs863223316
23andMers863223316
23andMe allrs863223316
SNP Nexus

SNPshotrs863223316
SNPdbers863223316
MSV3drs863223316
GWAS Ctlgrs863223316
Max Magnitude0
ClinVar
Risk rs863223316(T;T)
Alt rs863223316(T;T)
Reference Rs863223316(;)
Significance Pathogenic
Disease Congenital cataracts
Variation info
Gene SLC33A1
CLNDBN Congenital cataracts, hearing loss, and neurodegeneration
Reversed 1
HGVS NC_000003.11:g.155571173dupA
CLNSRC OMIM Allelic Variant
CLNACC RCV000023326.4,