rs63749888

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs63749888(C;C)

Make rs63749888(C;G)

Reference

GRCh38 38.1/141

Chromosome

4

Position

102885221

Gene	CISD2, SLC9B1

is a	snp
is	mentioned by
dbSNP	rs63749888
dbSNP (classic)	rs63749888
ClinGen	rs63749888
ebi	rs63749888
HLI	rs63749888
Exac	rs63749888
Gnomad	rs63749888
Varsome	rs63749888
LitVar	rs63749888
Map	rs63749888
PheGenI	rs63749888
Biobank	rs63749888
1000 genomes	rs63749888
hgdp	rs63749888
ensembl	rs63749888
geneview	rs63749888
scholar	rs63749888
google	rs63749888
pharmgkb	rs63749888
gwascentral	rs63749888
openSNP	rs63749888
23andMe	rs63749888
SNPshot	rs63749888
SNPdbe	rs63749888
MSV3d	rs63749888
GWAS Ctlg	rs63749888

Max Magnitude

0

OMIM	611507
Desc
Variant	0001
Related	also

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