rs869312187

Orientation

plus

Stabilized

plus

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

Make rs869312187(C;T)

Make rs869312187(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

19

Position

54128351

Gene

PRPF31

is a	snp
is	mentioned by
dbSNP	rs869312187
dbSNP (classic)	rs869312187
ClinGen	rs869312187
ebi	rs869312187
HLI	rs869312187
Exac	rs869312187
Gnomad	rs869312187
Varsome	rs869312187
LitVar	rs869312187
Map	rs869312187
PheGenI	rs869312187
Biobank	rs869312187
1000 genomes	rs869312187
hgdp	rs869312187
ensembl	rs869312187
geneview	rs869312187
scholar	rs869312187
google	rs869312187
pharmgkb	rs869312187
gwascentral	rs869312187
openSNP	rs869312187
23andMe	rs869312187
SNPshot	rs869312187
SNPdbe	rs869312187
MSV3d	rs869312187
GWAS Ctlg	rs869312187

Max Magnitude

0

ClinVar
Risk	rs869312187(A;A) rs869312187(T;T)
Alt	rs869312187(A;A) rs869312187(T;T)
Reference	Rs869312187(C;C)
Significance	Probable-Pathogenic
Disease	Retinal dystrophy
Variation	info
Gene	PRPF31
CLNDBN	Retinal dystrophy
Reversed	0
HGVS	NC_000019.9:g.54631726C>T
CLNSRC
CLNACC	RCV000210312.1,