rs76024428

Orientation

minus

Stabilized

minus

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

Make rs76024428(C;C)

Make rs76024428(C;G)

Reference

GRCh38 38.1/142

Chromosome

17

Position

6468237

Gene

PITPNM3

is a	snp
is	mentioned by
dbSNP	rs76024428
dbSNP (classic)	rs76024428
ClinGen	rs76024428
ebi	rs76024428
HLI	rs76024428
Exac	rs76024428
Gnomad	rs76024428
Varsome	rs76024428
LitVar	rs76024428
Map	rs76024428
PheGenI	rs76024428
Biobank	rs76024428
1000 genomes	rs76024428
hgdp	rs76024428
ensembl	rs76024428
geneview	rs76024428
scholar	rs76024428
google	rs76024428
pharmgkb	rs76024428
gwascentral	rs76024428
openSNP	rs76024428
23andMe	rs76024428
SNPshot	rs76024428
SNPdbe	rs76024428
MSV3d	rs76024428
GWAS Ctlg	rs76024428

GMAF

0.002296

Max Magnitude

0

OMIM	608921
Desc
Variant	0001
Related	also

ClinVar
Risk	rs76024428(C;C)
Alt	rs76024428(C;C)
Reference	Rs76024428(G;G)
Significance	Pathogenic
Disease	Cone-rod dystrophy 5 not specified Cone-Rod Dystrophy
Variation	info
Gene	PITPNM3
CLNDBN	Cone-rod dystrophy 5 not specified Cone-Rod Dystrophy, Dominant
Reversed	1
HGVS	NC_000017.10:g.6371557C>G
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002071.2, RCV000153697.3, RCV000312928.1,