rs3130

plus

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

Make rs3130(C;C)

Make rs3130(C;T)

Reference

GRCh38 38.1/141

Chromosome

4

Position

15968315

Gene

PROM1

is a	snp
is	mentioned by
dbSNP	rs3130
dbSNP (classic)	rs3130
ClinGen	rs3130
ebi	rs3130
HLI	rs3130
Exac	rs3130
Gnomad	rs3130
Varsome	rs3130
LitVar	rs3130
Map	rs3130
PheGenI	rs3130
Biobank	rs3130
1000 genomes	rs3130
hgdp	rs3130
ensembl	rs3130
geneview	rs3130
scholar	rs3130
google	rs3130
pharmgkb	rs3130
gwascentral	rs3130
openSNP	rs3130
23andMe	rs3130
SNPshot	rs3130
SNPdbe	rs3130
MSV3d	rs3130
GWAS Ctlg	rs3130

GMAF

0.4399

Max Magnitude

0

?

(C;C) (C;T) (T;T)

28

[PMID 24302553] Polymorphisms at the microRNA binding-site of the stem cell marker gene CD133 modify susceptibility to and survival of gastric cancer

[PMID 26406410] Association of CD133 polymorphisms and response to bevacizumab in patients with metastatic colorectal cancer

[PMID 27130457] Polymorphisms of the Stem Cell Marker Gene CD133 and the Risk of Lung Cancer in Chinese Population.

ClinVar
Risk	rs3130(C;C)
Alt	rs3130(C;C)
Reference	Rs3130(T;T)
Significance	Non-pathogenic
Disease	Stargardt Disease Retinitis Pigmentosa Cone-Rod Dystrophy Retinal Macular Dystrophy
Variation	info
Gene	PROM1
CLNDBN	Stargardt Disease, Dominant Retinitis Pigmentosa, Recessive Cone-Rod Dystrophy, Dominant Retinal Macular Dystrophy
Reversed	0
HGVS	NC_000004.11:g.15969938T>C
CLNSRC
CLNACC	RCV000279953.1, RCV000337375.1, RCV000343278.1, RCV000399307.1,

[PMID 28827262 ] Polymorphisms of the stem cell marker gene CD133 are associated the clinical outcome in a cohort of Chinese non-small cell lung cancer patients.