rs121918200

Orientation

minus

Stabilized

minus

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

Make rs121918200(C;C)

Make rs121918200(C;G)

Reference

GRCh38 38.1/141

Chromosome

16

Position

53652604

Gene

RPGRIP1L

is a	snp
is	mentioned by
dbSNP	rs121918200
dbSNP (classic)	rs121918200
ClinGen	rs121918200
ebi	rs121918200
HLI	rs121918200
Exac	rs121918200
Gnomad	rs121918200
Varsome	rs121918200
LitVar	rs121918200
Map	rs121918200
PheGenI	rs121918200
Biobank	rs121918200
1000 genomes	rs121918200
hgdp	rs121918200
ensembl	rs121918200
geneview	rs121918200
scholar	rs121918200
google	rs121918200
pharmgkb	rs121918200
gwascentral	rs121918200
openSNP	rs121918200
23andMe	rs121918200
SNPshot	rs121918200
SNPdbe	rs121918200
MSV3d	rs121918200
GWAS Ctlg	rs121918200

Max Magnitude

0

OMIM	610937
Desc
Variant	0004
Related	also

ClinVar
Risk	rs121918200(A;A) rs121918200(C;C)
Alt	rs121918200(A;A) rs121918200(C;C)
Reference	Rs121918200(G;G)
Significance	Pathogenic
Disease	Joubert syndrome 7
Variation	info
Gene	RPGRIP1L
CLNDBN	Joubert syndrome 7
Reversed	1
HGVS	NC_000016.9:g.53686516C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001126.2,