rs121918202

Orientation

minus

Stabilized

minus

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

Make rs121918202(C;T)

Make rs121918202(T;T)

Reference

GRCh38 38.1/141

Chromosome

16

Position

53671580

Gene

RPGRIP1L

is a	snp
is	mentioned by
dbSNP	rs121918202
dbSNP (classic)	rs121918202
ClinGen	rs121918202
ebi	rs121918202
HLI	rs121918202
Exac	rs121918202
Gnomad	rs121918202
Varsome	rs121918202
LitVar	rs121918202
Map	rs121918202
PheGenI	rs121918202
Biobank	rs121918202
1000 genomes	rs121918202
hgdp	rs121918202
ensembl	rs121918202
geneview	rs121918202
scholar	rs121918202
google	rs121918202
pharmgkb	rs121918202
gwascentral	rs121918202
openSNP	rs121918202
23andMe	rs121918202
SNPshot	rs121918202
SNPdbe	rs121918202
MSV3d	rs121918202
GWAS Ctlg	rs121918202

Max Magnitude

0

OMIM	610937
Desc
Variant	0006
Related	also

ClinVar
Risk	rs121918202(T;T)
Alt	rs121918202(T;T)
Reference	Rs121918202(C;C)
Significance	Pathogenic
Disease	Meckel syndrome type 5
Variation	info
Gene	RPGRIP1L
CLNDBN	Meckel syndrome type 5
Reversed	1
HGVS	NC_000016.9:g.53705492G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000001128.2,