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rs281875283

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281875283(C;C)
Make rs281875283(C;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position155853670
GeneSLC33A1
is asnp
is mentioned by
dbSNPrs281875283
ebirs281875283
HLIrs281875283
Exacrs281875283
Varsomers281875283
Maprs281875283
PheGenIrs281875283
hapmaprs281875283
1000 genomesrs281875283
hgdprs281875283
ensemblrs281875283
gopubmedrs281875283
geneviewrs281875283
scholarrs281875283
googlers281875283
pharmgkbrs281875283
gwascentralrs281875283
openSNPrs281875283
23andMers281875283
23andMe allrs281875283
SNP Nexus

SNPshotrs281875283
SNPdbers281875283
MSV3drs281875283
GWAS Ctlgrs281875283
Max Magnitude0
ClinVar
Risk rs281875283(C;C)
Alt rs281875283(C;C)
Reference rs281875283(G;G)
Significance Pathogenic
Disease Congenital cataracts not provided
Variation info
Gene SLC33A1
CLNDBN Congenital cataracts, hearing loss, and neurodegeneration not provided
Reversed 1
HGVS NC_000003.11:g.155571459C>G
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000023323.2, RCV000059633.1,


[PMID 22243965OA-icon.png] Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin.