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rs63749888

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs63749888(C;C)
Make rs63749888(C;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position102885221
GeneCISD2, NHEDC1
is asnp
is mentioned by
dbSNPrs63749888
ebirs63749888
HLIrs63749888
Exacrs63749888
Varsomers63749888
Maprs63749888
PheGenIrs63749888
hapmaprs63749888
1000 genomesrs63749888
hgdprs63749888
ensemblrs63749888
gopubmedrs63749888
geneviewrs63749888
scholarrs63749888
googlers63749888
pharmgkbrs63749888
gwascentralrs63749888
openSNPrs63749888
23andMers63749888
23andMe allrs63749888
SNP Nexus

SNPshotrs63749888
SNPdbers63749888
MSV3drs63749888
GWAS Ctlgrs63749888
Max Magnitude0
OMIM611507
Desc
Variant0001
Relatedalso


ClinVar
Risk rs63749888(C;C)
Alt rs63749888(C;C)
Reference rs63749888(G;G)
Significance Pathogenic
Disease Wolfram syndrome 2
Variation info
Gene SLC9B1 CISD2
CLNDBN Wolfram syndrome 2
Reversed 0
HGVS NC_000004.11:g.103806378G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000000940.3,



[PMID 17846994OA-icon.png] A homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram syndrome 2.