rs878853387

Orientation

minus

Stabilized

minus

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

Make rs878853387(-;-)

Make rs878853387(-;AACTC)

Reference

GRCh38.p2 38.2/147

Chromosome

17

Position

1662014

Gene

PRPF8

is a	snp
is	mentioned by
dbSNP	rs878853387
dbSNP (classic)	rs878853387
ClinGen	rs878853387
ebi	rs878853387
HLI	rs878853387
Exac	rs878853387
Gnomad	rs878853387
Varsome	rs878853387
LitVar	rs878853387
Map	rs878853387
PheGenI	rs878853387
Biobank	rs878853387
1000 genomes	rs878853387
hgdp	rs878853387
ensembl	rs878853387
geneview	rs878853387
scholar	rs878853387
google	rs878853387
pharmgkb	rs878853387
gwascentral	rs878853387
openSNP	rs878853387
23andMe	rs878853387
SNPshot	rs878853387
SNPdbe	rs878853387
MSV3d	rs878853387
GWAS Ctlg	rs878853387

Max Magnitude

0

ClinVar
Risk	rs878853387(-;-)
Alt	rs878853387(-;-)
Reference	Rs878853387(AACTC;AACTC)
Significance	Probable-Pathogenic
Disease	Retinal dystrophy
Variation	info
Gene	PRPF8
CLNDBN	Retinal dystrophy
Reversed	1
HGVS	NC_000017.10:g.1565308_1565312delGAGTT
CLNSRC
CLNACC	RCV000225622.1,