rs121918197

Orientation

minus

Stabilized

minus

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

Make rs121918197(A;T)

Make rs121918197(T;T)

Reference

GRCh38 38.1/141

Chromosome

16

Position

53686512

Gene

RPGRIP1L

is a	snp
is	mentioned by
dbSNP	rs121918197
dbSNP (classic)	rs121918197
ClinGen	rs121918197
ebi	rs121918197
HLI	rs121918197
Exac	rs121918197
Gnomad	rs121918197
Varsome	rs121918197
LitVar	rs121918197
Map	rs121918197
PheGenI	rs121918197
Biobank	rs121918197
1000 genomes	rs121918197
hgdp	rs121918197
ensembl	rs121918197
geneview	rs121918197
scholar	rs121918197
google	rs121918197
pharmgkb	rs121918197
gwascentral	rs121918197
openSNP	rs121918197
23andMe	rs121918197
SNPshot	rs121918197
SNPdbe	rs121918197
MSV3d	rs121918197
GWAS Ctlg	rs121918197

GMAF

0.0004591

Max Magnitude

0

OMIM	610937
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121918197(C;C) rs121918197(T;T)
Alt	rs121918197(C;C) rs121918197(T;T)
Reference	Rs121918197(A;A)
Significance	Pathogenic
Disease	Joubert syndrome 7 RPGRIP1L-Related Disorders
Variation	info
Gene	RPGRIP1L
CLNDBN	Joubert syndrome 7 RPGRIP1L-Related Disorders
Reversed	1
HGVS	NC_000016.9:g.53720424T>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000001123.2, RCV000367935.1,