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rs3213758

From SNPedia

Orientationplus
Stabilizedplus
Make rs3213758(C;C)
Make rs3213758(C;T)
Make rs3213758(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position53605526
GeneRPGRIP1L
is asnp
is mentioned by
dbSNPrs3213758
ebirs3213758
HLIrs3213758
Exacrs3213758
Varsomers3213758
Maprs3213758
PheGenIrs3213758
hapmaprs3213758
1000 genomesrs3213758
hgdprs3213758
ensemblrs3213758
gopubmedrs3213758
geneviewrs3213758
scholarrs3213758
googlers3213758
pharmgkbrs3213758
gwascentralrs3213758
openSNPrs3213758
23andMers3213758
23andMe allrs3213758
SNP Nexus

SNPshotrs3213758
SNPdbers3213758
MSV3drs3213758
GWAS Ctlgrs3213758
GMAF0.101
Max Magnitude
? (C;C) (C;T) (T;T) 28
GWAS snp
PMID [PMID 23678272OA-icon.png]
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 18565097OA-icon.png] RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders.


[PMID 19430481OA-icon.png] 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
Variation info
Gene RPGRIP1L
CLNDBN not specified not provided
Reversed 0
HGVS NC_000016.9:g.53639438C>T
CLNSRC ClinVar GeneDx University of Chicago
CLNACC RCV000114220.2, RCV000127803.4,