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

rs17103671

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs17103671(A;G)
Make rs17103671(G;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position21343037
GeneRPGRIP1
is asnp
is mentioned by
dbSNPrs17103671
ebirs17103671
HLIrs17103671
Exacrs17103671
Varsomers17103671
Maprs17103671
PheGenIrs17103671
hapmaprs17103671
1000 genomesrs17103671
hgdprs17103671
ensemblrs17103671
gopubmedrs17103671
geneviewrs17103671
scholarrs17103671
googlers17103671
pharmgkbrs17103671
gwascentralrs17103671
openSNPrs17103671
23andMers17103671
23andMe allrs17103671
SNP Nexus

SNPshotrs17103671
SNPdbers17103671
MSV3drs17103671
GWAS Ctlgrs17103671
GMAF0.02617
Max Magnitude0
? (A;A) (A;G) (G;G) 28
OMIM605446
Desc
Variant0007
Relatedalso


ClinVar
Risk rs17103671(G;G)
Alt rs17103671(G;G)
Reference rs17103671(A;A)
Significance Pathogenic
Disease Leber congenital amaurosis 6 not specified
Variation info
Gene RPGRIP1
CLNDBN Leber congenital amaurosis 6 not specified
Reversed 0
HGVS NC_000014.8:g.21811196A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000005276.3, RCV000176224.1,



GET Evidence
RPGRIP1-D1114G
aa_change Asp1114Gly
aa_change_short D1114G
impact pathogenic
qualified_impact High clinical importance, Uncertain pathogenic
overall_frequency 0.0264887
summary This variant is hypothesized to cause Leber's Congenital Amaurosis in a recessive manner (causing severe vision loss and blindness), but stastical significance cannot be established without any observations of allele frequency in controls. This variant is a missense and predicted by Polyphen 2 to have a benign effect, while other causal variants implicated in this gene are severe truncating variants (nonsense or frameshift mutations).