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

rs61751383

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs61751383(C;T)
Make rs61751383(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position94005500
GeneABCA4
is asnp
is mentioned by
dbSNPrs61751383
ebirs61751383
HLIrs61751383
Exacrs61751383
Varsomers61751383
Maprs61751383
PheGenIrs61751383
hapmaprs61751383
1000 genomesrs61751383
hgdprs61751383
ensemblrs61751383
gopubmedrs61751383
geneviewrs61751383
scholarrs61751383
googlers61751383
pharmgkbrs61751383
gwascentralrs61751383
openSNPrs61751383
23andMers61751383
23andMe allrs61751383
SNP Nexus

SNPshotrs61751383
SNPdbers61751383
MSV3drs61751383
GWAS Ctlgrs61751383
Max Magnitude0
OMIM601691
Desc
Variant0029
Relatedalso


ClinVar
Risk rs61751383(T;T)
Alt rs61751383(T;T)
Reference rs61751383(C;C)
Significance Pathogenic
Disease Retinal dystrophy not provided
Variation info
Gene ABCA4
CLNDBN Retinal dystrophy, early-onset severe not provided
Reversed 1
HGVS NC_000001.10:g.94471056G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008365.2, RCV000085786.1,