rs144738703

Orientation

plus

Stabilized

plus

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

Make rs144738703(C;T)

Make rs144738703(T;T)

Reference

GRCh38 38.1/142

Chromosome

19

Position

54123836

Gene

PRPF31

is a	snp
is	mentioned by
dbSNP	rs144738703
dbSNP (classic)	rs144738703
ClinGen	rs144738703
ebi	rs144738703
HLI	rs144738703
Exac	rs144738703
Gnomad	rs144738703
Varsome	rs144738703
LitVar	rs144738703
Map	rs144738703
PheGenI	rs144738703
Biobank	rs144738703
1000 genomes	rs144738703
hgdp	rs144738703
ensembl	rs144738703
geneview	rs144738703
scholar	rs144738703
google	rs144738703
pharmgkb	rs144738703
gwascentral	rs144738703
openSNP	rs144738703
23andMe	rs144738703
SNPshot	rs144738703
SNPdbe	rs144738703
MSV3d	rs144738703
GWAS Ctlg	rs144738703

Max Magnitude

0

ClinVar
Risk	rs144738703(A;A) rs144738703(G;G) rs144738703(T;T)
Alt	rs144738703(A;A) rs144738703(G;G) rs144738703(T;T)
Reference	Rs144738703(C;C)
Significance	Pathogenic
Disease	not provided Retinitis pigmentosa
Variation	info
Gene	AC012314.8 PRPF31 LOC101928780
CLNDBN	not provided Retinitis pigmentosa
Reversed	0
HGVS	NC_000019.9:g.54627215C>A; NC_000019.9:g.54627215C>G
CLNSRC	HGMD
CLNACC	RCV000081777.4, RCV000132674.1,