rs397514575

Orientation

minus

Stabilized

minus

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

Make rs397514575(C;G)

Make rs397514575(G;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

96290415

Gene

SNRNP200

is a	snp
is	mentioned by
dbSNP	rs397514575
dbSNP (classic)	rs397514575
ClinGen	rs397514575
ebi	rs397514575
HLI	rs397514575
Exac	rs397514575
Gnomad	rs397514575
Varsome	rs397514575
LitVar	rs397514575
Map	rs397514575
PheGenI	rs397514575
Biobank	rs397514575
1000 genomes	rs397514575
hgdp	rs397514575
ensembl	rs397514575
geneview	rs397514575
scholar	rs397514575
google	rs397514575
pharmgkb	rs397514575
gwascentral	rs397514575
openSNP	rs397514575
23andMe	rs397514575
SNPshot	rs397514575
SNPdbe	rs397514575
MSV3d	rs397514575
GWAS Ctlg	rs397514575

Max Magnitude

0

ClinVar
Risk	rs397514575(G;G)
Alt	rs397514575(G;G)
Reference	Rs397514575(C;C)
Significance	Pathogenic
Disease	Retinitis pigmentosa 33
Variation	info
Gene	SNRNP200
CLNDBN	Retinitis pigmentosa 33
Reversed	1
HGVS	NC_000002.11:g.96956153G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000032963.3,