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

rs751218423

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs751218423(C;T)
Make rs751218423(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome16
Position3523261
GeneCLUAP1
is asnp
is mentioned by
dbSNPrs751218423
ebirs751218423
HLIrs751218423
Exacrs751218423
Varsomers751218423
Maprs751218423
PheGenIrs751218423
hapmaprs751218423
1000 genomesrs751218423
hgdprs751218423
ensemblrs751218423
gopubmedrs751218423
geneviewrs751218423
scholarrs751218423
googlers751218423
pharmgkbrs751218423
gwascentralrs751218423
openSNPrs751218423
23andMers751218423
23andMe allrs751218423
SNP Nexus

SNPshotrs751218423
SNPdbers751218423
MSV3drs751218423
GWAS Ctlgrs751218423
Max Magnitude0
ClinVar
Risk rs751218423(T;T)
Alt rs751218423(T;T)
Reference rs751218423(C;C)
Significance Pathogenic
Disease Oculoectodermal syndrome Leber congenital amaurosis
Variation info
Gene CLUAP1
CLNDBN Oculoectodermal syndrome Leber congenital amaurosis
Reversed 0
HGVS NC_000016.9:g.3573261C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000210001.2, RCV000210897.1,