rs3213758

Orientation

plus

Stabilized

plus

Make rs3213758(C;C)

Make rs3213758(C;T)

Make rs3213758(T;T)

Reference

GRCh38 38.1/141

Chromosome

16

Position

53605526

Gene

RPGRIP1L

is a	snp
is	mentioned by
dbSNP	rs3213758
dbSNP (classic)	rs3213758
ClinGen	rs3213758
ebi	rs3213758
HLI	rs3213758
Exac	rs3213758
Gnomad	rs3213758
Varsome	rs3213758
LitVar	rs3213758
Map	rs3213758
PheGenI	rs3213758
Biobank	rs3213758
1000 genomes	rs3213758
hgdp	rs3213758
ensembl	rs3213758
geneview	rs3213758
scholar	rs3213758
google	rs3213758
pharmgkb	rs3213758
gwascentral	rs3213758
openSNP	rs3213758
23andMe	rs3213758
SNPshot	rs3213758
SNPdbe	rs3213758
MSV3d	rs3213758
GWAS Ctlg	rs3213758

GMAF

0.101

Max Magnitude

0

?	(C;C) (C;T) (T;T)	28

GWAS snp
PMID	[PMID 23678272]
Trait	Vitiligo (non-segmental)
Title	Three new single nucleotide polymorphisms identified by a genome-wide association study in Korean patients with vitiligo.
Risk Allele	A
P-val	6E-11
Odds Ratio	2.77 [2.04-3.76]

[PMID 18565097] RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders.

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

ClinVar
Risk	rs3213758(T;T)
Alt	rs3213758(T;T)
Reference	rs3213758(C;C)
Significance	Other
Disease	not specified not provided Nephronophthisis Joubert syndrome Meckel-Gruber syndrome
Variation	info
Gene	RPGRIP1L
CLNDBN	not specified not provided Nephronophthisis Joubert syndrome Meckel-Gruber syndrome
Reversed	0
HGVS	NC_000016.9:g.53639438C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000114220.3, RCV000127803.4, RCV000291008.1, RCV000343585.1, RCV000388776.1,