rs121434242

Orientation

plus

Stabilized

plus

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

Make rs121434242(C;T)

Make rs121434242(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

150344212

Gene

PRPF3

is a	snp
is	mentioned by
dbSNP	rs121434242
dbSNP (classic)	rs121434242
ClinGen	rs121434242
ebi	rs121434242
HLI	rs121434242
Exac	rs121434242
Gnomad	rs121434242
Varsome	rs121434242
LitVar	rs121434242
Map	rs121434242
PheGenI	rs121434242
Biobank	rs121434242
1000 genomes	rs121434242
hgdp	rs121434242
ensembl	rs121434242
geneview	rs121434242
scholar	rs121434242
google	rs121434242
pharmgkb	rs121434242
gwascentral	rs121434242
openSNP	rs121434242
23andMe	rs121434242
SNPshot	rs121434242
SNPdbe	rs121434242
MSV3d	rs121434242
GWAS Ctlg	rs121434242

Max Magnitude

0

OMIM	607301
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121434242(T;T)
Alt	rs121434242(T;T)
Reference	Rs121434242(C;C)
Significance	Pathogenic
Disease	Retinitis pigmentosa 18
Variation	info
Gene	PRPF3
CLNDBN	Retinitis pigmentosa 18
Reversed	0
HGVS	NC_000001.10:g.150316688C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003517.2,