rs74552543

Orientation

plus

Stabilized

plus

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

Make rs74552543(C;C)

Make rs74552543(C;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

96761970

Gene

CNNM4

is a	snp
is	mentioned by
dbSNP	rs74552543
dbSNP (classic)	rs74552543
ClinGen	rs74552543
ebi	rs74552543
HLI	rs74552543
Exac	rs74552543
Gnomad	rs74552543
Varsome	rs74552543
LitVar	rs74552543
Map	rs74552543
PheGenI	rs74552543
Biobank	rs74552543
1000 genomes	rs74552543
hgdp	rs74552543
ensembl	rs74552543
geneview	rs74552543
scholar	rs74552543
google	rs74552543
pharmgkb	rs74552543
gwascentral	rs74552543
openSNP	rs74552543
23andMe	rs74552543
SNPshot	rs74552543
SNPdbe	rs74552543
MSV3d	rs74552543
GWAS Ctlg	rs74552543

Max Magnitude

0

OMIM	607805
Desc
Variant	0003
Related	also

ClinVar
Risk	rs74552543(C;C)
Alt	rs74552543(C;C)
Reference	Rs74552543(T;T)
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.97427707T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002983.2,

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