rs121918203

Orientation

minus

Stabilized

minus

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

Make rs121918203(C;T)

Make rs121918203(T;T)

Reference

GRCh38 38.1/141

Chromosome

16

Position

53645694

Gene

RPGRIP1L

is a	snp
is	mentioned by
dbSNP	rs121918203
dbSNP (classic)	rs121918203
ClinGen	rs121918203
ebi	rs121918203
HLI	rs121918203
Exac	rs121918203
Gnomad	rs121918203
Varsome	rs121918203
LitVar	rs121918203
Map	rs121918203
PheGenI	rs121918203
Biobank	rs121918203
1000 genomes	rs121918203
hgdp	rs121918203
ensembl	rs121918203
geneview	rs121918203
scholar	rs121918203
google	rs121918203
pharmgkb	rs121918203
gwascentral	rs121918203
openSNP	rs121918203
23andMe	rs121918203
SNPshot	rs121918203
SNPdbe	rs121918203
MSV3d	rs121918203
GWAS Ctlg	rs121918203

Max Magnitude

0

OMIM	610937
Desc
Variant	0007
Related	also

ClinVar
Risk	rs121918203(T;T)
Alt	rs121918203(T;T)
Reference	Rs121918203(C;C)
Significance	Pathogenic
Disease	Meckel syndrome type 5 not provided Joubert syndrome 7
Variation	info
Gene	RPGRIP1L
CLNDBN	Meckel syndrome type 5 not provided Joubert syndrome 7
Reversed	1
HGVS	NC_000016.9:g.53679606G>A
CLNSRC	HGMD OMIM Allelic Variant
CLNACC	RCV000033207.4, RCV000081724.3, RCV000175207.1,