rs121918204

Orientation

minus

Stabilized

minus

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

Make rs121918204(C;T)

Make rs121918204(T;T)

Reference

GRCh38 38.1/141

Chromosome

16

Position

53652637

Gene

RPGRIP1L

is a	snp
is	mentioned by
dbSNP	rs121918204
dbSNP (classic)	rs121918204
ClinGen	rs121918204
ebi	rs121918204
HLI	rs121918204
Exac	rs121918204
Gnomad	rs121918204
Varsome	rs121918204
LitVar	rs121918204
Map	rs121918204
PheGenI	rs121918204
Biobank	rs121918204
1000 genomes	rs121918204
hgdp	rs121918204
ensembl	rs121918204
geneview	rs121918204
scholar	rs121918204
google	rs121918204
pharmgkb	rs121918204
gwascentral	rs121918204
openSNP	rs121918204
23andMe	rs121918204
SNPshot	rs121918204
SNPdbe	rs121918204
MSV3d	rs121918204
GWAS Ctlg	rs121918204

Max Magnitude

0

OMIM	610937
Desc
Variant	0009
Related	also

ClinVar
Risk	rs121918204(T;T)
Alt	rs121918204(T;T)
Reference	Rs121918204(C;C)
Significance	Pathogenic
Disease	Joubert syndrome 7
Variation	info
Gene	RPGRIP1L
CLNDBN	Joubert syndrome 7
Reversed	1
HGVS	NC_000016.9:g.53686549G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000001131.3,