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Rs104894470

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Orientationplus
is asnp
is mentioned by
dbSNPrs104894470
PheGenIrs104894470
nextbiors104894470
hapmaprs104894470
1000 genomesrs104894470
hgdprs104894470
ensemblrs104894470
gopubmedrs104894470
geneviewrs104894470
scholarrs104894470
googlers104894470
pharmgkbrs104894470
gwascentralrs104894470
openSNPrs104894470
23andMers104894470
23andMe allrs104894470
SNP Nexus

SNPshotrs104894470
SNPdbers104894470
MSV3drs104894470
GeneLOC102723898, RDH12
Chromosome14
Orientationplus
Position67727097
ReferenceGRCh38 38.1/141
Max Magnitude0
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894470(C;T)
Make rs104894470(T;T)
OMIM608830
Desc
Variant0003
Relatedalso
ClinVar
Risk rs104894470(T;T)
Alt rs104894470(T;T)
Reference rs104894470(C;C)
Significance 5
Disease Leber congenital amaurosis 13
ClinVar info
Gene RDH12
CLNDBN Leber congenital amaurosis 13
Reversed 0
CLNHGVS NC_000014.8:g.68193814C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002129.1