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rs137853124

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137853124(A;A)
Make rs137853124(A;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position21294785
GeneRPGRIP1
is asnp
is mentioned by
dbSNPrs137853124
ebirs137853124
HLIrs137853124
Exacrs137853124
Varsomers137853124
Maprs137853124
PheGenIrs137853124
hapmaprs137853124
1000 genomesrs137853124
hgdprs137853124
ensemblrs137853124
gopubmedrs137853124
geneviewrs137853124
scholarrs137853124
googlers137853124
pharmgkbrs137853124
gwascentralrs137853124
openSNPrs137853124
23andMers137853124
23andMe allrs137853124
SNP Nexus

SNPshotrs137853124
SNPdbers137853124
MSV3drs137853124
GWAS Ctlgrs137853124
Max Magnitude0
OMIM605446
Desc
Variant0002
Relatedalso
ClinVar
Risk rs137853124(A;A)
Alt rs137853124(A;A)
Reference rs137853124(G;G)
Significance Pathogenic
Disease Leber congenital amaurosis 6
Variation info
Gene RPGRIP1
CLNDBN Leber congenital amaurosis 6
Reversed 0
HGVS NC_000014.8:g.21762944G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005271.3,