rs532768944

Orientation

plus

Stabilized

plus

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

Make rs532768944(A;A)

Make rs532768944(A;G)

Reference

GRCh38.p2 38.2/146

Chromosome

16

Position

53652657

Gene

RPGRIP1L

is a	snp
is	mentioned by
dbSNP	rs532768944
dbSNP (classic)	rs532768944
ClinGen	rs532768944
ebi	rs532768944
HLI	rs532768944
Exac	rs532768944
Gnomad	rs532768944
Varsome	rs532768944
LitVar	rs532768944
Map	rs532768944
PheGenI	rs532768944
Biobank	rs532768944
1000 genomes	rs532768944
hgdp	rs532768944
ensembl	rs532768944
geneview	rs532768944
scholar	rs532768944
google	rs532768944
pharmgkb	rs532768944
gwascentral	rs532768944
openSNP	rs532768944
23andMe	rs532768944
SNPshot	rs532768944
SNPdbe	rs532768944
MSV3d	rs532768944
GWAS Ctlg	rs532768944

Max Magnitude

0

ClinVar
Risk	rs532768944(A;A)
Alt	rs532768944(A;A)
Reference	Rs532768944(G;G)
Significance	Pathogenic
Disease	Joubert syndrome 7 Meckel syndrome type 5
Variation	info
Gene	RPGRIP1L
CLNDBN	Joubert syndrome 7 Meckel syndrome type 5
Reversed	0
HGVS	NC_000016.9:g.53686569G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000174928.1, RCV000174929.1,