Have questions? Visit https://www.reddit.com/r/SNPedia

rs61747071

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs61747071(C;T)
Make rs61747071(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position53686524
GeneRPGRIP1L
is asnp
is mentioned by
dbSNPrs61747071
ebirs61747071
HLIrs61747071
Exacrs61747071
Varsomers61747071
Maprs61747071
PheGenIrs61747071
hapmaprs61747071
1000 genomesrs61747071
hgdprs61747071
ensemblrs61747071
gopubmedrs61747071
geneviewrs61747071
scholarrs61747071
googlers61747071
pharmgkbrs61747071
gwascentralrs61747071
openSNPrs61747071
23andMers61747071
23andMe allrs61747071
SNP Nexus

SNPshotrs61747071
SNPdbers61747071
MSV3drs61747071
GWAS Ctlgrs61747071
GMAF0.03903
Max Magnitude0
OMIM610937
DescRPGRIP1-LIKE; RPGRIP1L
Variant
Relatedalso
OMIM610937
Desc
Variant0010
Relatedalso


ClinVar
Risk rs61747071(T;T)
Alt rs61747071(T;T)
Reference rs61747071(C;C)
Significance Other
Disease Retinitis pigmentosa in ciliopathies Familial aplasia of the vermis not specified Nephronophthisis
Variation info
Gene RPGRIP1L
CLNDBN Retinitis pigmentosa in ciliopathies, modifier of Familial aplasia of the vermis not specified Nephronophthisis
Reversed 0
HGVS NC_000016.9:g.53720436C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001133.3, RCV000035002.1, RCV000114223.4, RCV000234815.1,



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


GET Evidence
RPGRIP1L-A229T
aa_change Ala229Thr
aa_change_short A229T
impact pathogenic
qualified_impact Low clinical importance, Likely pathogenic
overall_frequency 0.0561443
summary This variant is generally not considered pathogenic, but when combined with other severe variants it is associated with rare genetic diseases which involve retinal degeneration. Carrying this variant increases the risk of these diseases, but the overall increased risk is very small because the diseases are very rare.