rs61747071

Orientation

plus

Stabilized

plus

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

Make rs61747071(C;T)

Make rs61747071(T;T)

Reference

GRCh38 38.1/141

Chromosome

16

Position

53686524

Gene

RPGRIP1L

is a	snp
is	mentioned by
dbSNP	rs61747071
dbSNP (classic)	rs61747071
ClinGen	rs61747071
ebi	rs61747071
HLI	rs61747071
Exac	rs61747071
Gnomad	rs61747071
Varsome	rs61747071
LitVar	rs61747071
Map	rs61747071
PheGenI	rs61747071
Biobank	rs61747071
1000 genomes	rs61747071
hgdp	rs61747071
ensembl	rs61747071
geneview	rs61747071
scholar	rs61747071
google	rs61747071
pharmgkb	rs61747071
gwascentral	rs61747071
openSNP	rs61747071
23andMe	rs61747071
SNPshot	rs61747071
SNPdbe	rs61747071
MSV3d	rs61747071
GWAS Ctlg	rs61747071

GMAF

0.03903

Max Magnitude

0

OMIM	610937
Desc	RPGRIP1-LIKE; RPGRIP1L
Variant
Related	also

OMIM	610937
Desc
Variant	0010
Related	also

ClinVar
Risk	rs61747071(T;T)
Alt	rs61747071(T;T)
Reference	Rs61747071(C;C)
Significance	Other
Disease	Retinitis pigmentosa in ciliopathies Joubert syndrome not specified Nephronophthisis Meckel-Gruber syndrome
Variation	info
Gene	RPGRIP1L
CLNDBN	Retinitis pigmentosa in ciliopathies, modifier of Joubert syndrome not specified Nephronophthisis Meckel-Gruber syndrome
Reversed	0
HGVS	NC_000016.9:g.53720436C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001133.3, RCV000035002.2, RCV000114223.5, RCV000234815.2, RCV000332989.1, RCV000473873.1,

[PMID 19430481] A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.