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rs104894673

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894673(C;T)
Make rs104894673(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position47839335
GeneCRX
is asnp
is mentioned by
dbSNPrs104894673
ebirs104894673
HLIrs104894673
Exacrs104894673
Varsomers104894673
Maprs104894673
PheGenIrs104894673
hapmaprs104894673
1000 genomesrs104894673
hgdprs104894673
ensemblrs104894673
gopubmedrs104894673
geneviewrs104894673
scholarrs104894673
googlers104894673
pharmgkbrs104894673
gwascentralrs104894673
openSNPrs104894673
23andMers104894673
23andMe allrs104894673
SNP Nexus

SNPshotrs104894673
SNPdbers104894673
MSV3drs104894673
GWAS Ctlgrs104894673
Max Magnitude0
OMIM602225
Desc
Variant0007
Relatedalso
ClinVar
Risk rs104894673(T;T)
Alt rs104894673(T;T)
Reference rs104894673(C;C)
Significance Pathogenic
Disease Leber congenital amaurosis 7 not provided
Variation info
Gene CRX
CLNDBN Leber congenital amaurosis 7 not provided
Reversed 0
HGVS NC_000019.9:g.48342592C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000007847.2, RCV000086364.1,