rs75559353

Orientation

plus

Stabilized

plus

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

Make rs75559353(C;T)

Make rs75559353(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

96809338

Gene

CNNM4

is a	snp
is	mentioned by
dbSNP	rs75559353
dbSNP (classic)	rs75559353
ClinGen	rs75559353
ebi	rs75559353
HLI	rs75559353
Exac	rs75559353
Gnomad	rs75559353
Varsome	rs75559353
LitVar	rs75559353
Map	rs75559353
PheGenI	rs75559353
Biobank	rs75559353
1000 genomes	rs75559353
hgdp	rs75559353
ensembl	rs75559353
geneview	rs75559353
scholar	rs75559353
google	rs75559353
pharmgkb	rs75559353
gwascentral	rs75559353
openSNP	rs75559353
23andMe	rs75559353
SNPshot	rs75559353
SNPdbe	rs75559353
MSV3d	rs75559353
GWAS Ctlg	rs75559353

Max Magnitude

0

OMIM	607805
Desc
Variant	0006
Related	also

ClinVar
Risk	rs75559353(T;T)
Alt	rs75559353(T;T)
Reference	Rs75559353(C;C)
Significance	Pathogenic
Disease	Cone-rod dystrophy amelogenesis imperfecta
Variation	info
Gene	CNNM4
CLNDBN	Cone-rod dystrophy amelogenesis imperfecta
Reversed	0
HGVS	NC_000002.11:g.97475075C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002986.2,

[PMID 19200525] Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta.