rs121918201

Orientation

minus

Stabilized

minus

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

Make rs121918201(A;T)

Make rs121918201(T;T)

Reference

GRCh38 38.1/141

Chromosome

16

Position

53692201

Gene

RPGRIP1L

is a	snp
is	mentioned by
dbSNP	rs121918201
dbSNP (classic)	rs121918201
ClinGen	rs121918201
ebi	rs121918201
HLI	rs121918201
Exac	rs121918201
Gnomad	rs121918201
Varsome	rs121918201
LitVar	rs121918201
Map	rs121918201
PheGenI	rs121918201
Biobank	rs121918201
1000 genomes	rs121918201
hgdp	rs121918201
ensembl	rs121918201
geneview	rs121918201
scholar	rs121918201
google	rs121918201
pharmgkb	rs121918201
gwascentral	rs121918201
openSNP	rs121918201
23andMe	rs121918201
SNPshot	rs121918201
SNPdbe	rs121918201
MSV3d	rs121918201
GWAS Ctlg	rs121918201

Max Magnitude

0

OMIM	610937
Desc
Variant	0005
Related	also

ClinVar
Risk	rs121918201(T;T)
Alt	rs121918201(T;T)
Reference	Rs121918201(A;A)
Significance	Pathogenic
Disease	Meckel syndrome type 5
Variation	info
Gene	RPGRIP1L
CLNDBN	Meckel syndrome type 5
Reversed	1
HGVS	NC_000016.9:g.53726113T>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000001127.2,