rs140872693

Orientation

plus

Stabilized

plus

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

Make rs140872693(C;C)

Make rs140872693(C;G)

Reference

GRCh38.p2 38.2/144

Chromosome

4

Position

16025218

Gene

PROM1

is a	snp
is	mentioned by
dbSNP	rs140872693
dbSNP (classic)	rs140872693
ClinGen	rs140872693
ebi	rs140872693
HLI	rs140872693
Exac	rs140872693
Gnomad	rs140872693
Varsome	rs140872693
LitVar	rs140872693
Map	rs140872693
PheGenI	rs140872693
Biobank	rs140872693
1000 genomes	rs140872693
hgdp	rs140872693
ensembl	rs140872693
geneview	rs140872693
scholar	rs140872693
google	rs140872693
pharmgkb	rs140872693
gwascentral	rs140872693
openSNP	rs140872693
23andMe	rs140872693
SNPshot	rs140872693
SNPdbe	rs140872693
MSV3d	rs140872693
GWAS Ctlg	rs140872693

Max Magnitude

0

ClinVar
Risk	rs140872693(C;C) rs140872693(T;T)
Alt	rs140872693(C;C) rs140872693(T;T)
Reference	Rs140872693(G;G)
Significance	Probable-Pathogenic
Disease	not provided Cone-Rod Dystrophy Retinal Macular Dystrophy Stargardt Disease Retinitis Pigmentosa
Variation	info
Gene	PROM1
CLNDBN	not provided Cone-Rod Dystrophy, Dominant Retinal Macular Dystrophy Stargardt Disease, Dominant Retinitis Pigmentosa, Recessive
Reversed	0
HGVS	NC_000004.11:g.16026841G>C
CLNSRC
CLNACC	RCV000171375.1, RCV000299552.1, RCV000348573.1, RCV000356757.1, RCV000390528.1,