rs79424354

Orientation

plus

Stabilized

plus

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

Make rs79424354(A;A)

Make rs79424354(A;C)

Reference

GRCh38 38.1/141

Chromosome

2

Position

96761598

Gene

CNNM4

is a	snp
is	mentioned by
dbSNP	rs79424354
dbSNP (classic)	rs79424354
ClinGen	rs79424354
ebi	rs79424354
HLI	rs79424354
Exac	rs79424354
Gnomad	rs79424354
Varsome	rs79424354
LitVar	rs79424354
Map	rs79424354
PheGenI	rs79424354
Biobank	rs79424354
1000 genomes	rs79424354
hgdp	rs79424354
ensembl	rs79424354
geneview	rs79424354
scholar	rs79424354
google	rs79424354
pharmgkb	rs79424354
gwascentral	rs79424354
openSNP	rs79424354
23andMe	rs79424354
SNPshot	rs79424354
SNPdbe	rs79424354
MSV3d	rs79424354
GWAS Ctlg	rs79424354

Max Magnitude

0

OMIM	607805
Desc
Variant	0005
Related	also

ClinVar
Risk	rs79424354(A;A)
Alt	rs79424354(A;A)
Reference	Rs79424354(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.97427335C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002985.3,

[PMID 3236352] A progressive cone-rod dystrophy and amelogenesis imperfecta: a new syndrome.

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