rs119475042

Orientation

plus

Stabilized

plus

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

Make rs119475042(C;C)

Make rs119475042(C;G)

Reference

GRCh38 38.1/141

Chromosome

19

Position

54123867

Gene

PRPF31

is a	snp
is	mentioned by
dbSNP	rs119475042
dbSNP (classic)	rs119475042
ClinGen	rs119475042
ebi	rs119475042
HLI	rs119475042
Exac	rs119475042
Gnomad	rs119475042
Varsome	rs119475042
LitVar	rs119475042
Map	rs119475042
PheGenI	rs119475042
Biobank	rs119475042
1000 genomes	rs119475042
hgdp	rs119475042
ensembl	rs119475042
geneview	rs119475042
scholar	rs119475042
google	rs119475042
pharmgkb	rs119475042
gwascentral	rs119475042
openSNP	rs119475042
23andMe	rs119475042
SNPshot	rs119475042
SNPdbe	rs119475042
MSV3d	rs119475042
GWAS Ctlg	rs119475042

Max Magnitude

0

OMIM	606419
Desc
Variant	0002
Related	also

ClinVar
Risk	rs119475042(A;A) rs119475042(C;C)
Alt	rs119475042(A;A) rs119475042(C;C)
Reference	Rs119475042(G;G)
Significance	Pathogenic
Disease	Retinitis pigmentosa 11
Variation	info
Gene	AC012314.8 PRPF31 LOC101928780
CLNDBN	Retinitis pigmentosa 11
Reversed	0
HGVS	NC_000019.9:g.54627246G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004607.4,