rs863225217

Orientation

minus

Stabilized

minus

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

Make rs863225217(-;-)

Make rs863225217(-;T)

Reference

GRCh38.p2 38.2/146

Chromosome

16

Position

53664981

Gene

RPGRIP1L

is a	snp
is	mentioned by
dbSNP	rs863225217
dbSNP (classic)	rs863225217
ClinGen	rs863225217
ebi	rs863225217
HLI	rs863225217
Exac	rs863225217
Gnomad	rs863225217
Varsome	rs863225217
LitVar	rs863225217
Map	rs863225217
PheGenI	rs863225217
Biobank	rs863225217
1000 genomes	rs863225217
hgdp	rs863225217
ensembl	rs863225217
geneview	rs863225217
scholar	rs863225217
google	rs863225217
pharmgkb	rs863225217
gwascentral	rs863225217
openSNP	rs863225217
23andMe	rs863225217
SNPshot	rs863225217
SNPdbe	rs863225217
MSV3d	rs863225217
GWAS Ctlg	rs863225217

Max Magnitude

0

ClinVar
Risk	rs863225217(-;-)
Alt	rs863225217(-;-)
Reference	Rs863225217(T;T)
Significance	Pathogenic
Disease	Joubert syndrome 7
Variation	info
Gene	RPGRIP1L
CLNDBN	Joubert syndrome 7
Reversed	1
HGVS	NC_000016.9:g.53698893delA
CLNSRC
CLNACC	RCV000201745.1,