rs80100937

Orientation

plus

Stabilized

plus

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

Make rs80100937(C;T)

Make rs80100937(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

96799065

Gene

CNNM4

is a	snp
is	mentioned by
dbSNP	rs80100937
dbSNP (classic)	rs80100937
ClinGen	rs80100937
ebi	rs80100937
HLI	rs80100937
Exac	rs80100937
Gnomad	rs80100937
Varsome	rs80100937
LitVar	rs80100937
Map	rs80100937
PheGenI	rs80100937
Biobank	rs80100937
1000 genomes	rs80100937
hgdp	rs80100937
ensembl	rs80100937
geneview	rs80100937
scholar	rs80100937
google	rs80100937
pharmgkb	rs80100937
gwascentral	rs80100937
openSNP	rs80100937
23andMe	rs80100937
SNPshot	rs80100937
SNPdbe	rs80100937
MSV3d	rs80100937
GWAS Ctlg	rs80100937

Max Magnitude

0

OMIM	607805
Desc
Variant	0004
Related	also

ClinVar
Risk	rs80100937(T;T)
Alt	rs80100937(T;T)
Reference	Rs80100937(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.97464802C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002984.3,

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