Rs121434542

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Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121434542(A;A)
Make rs121434542(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position68685288
GeneCDH3
is asnp
is mentioned by
dbSNPrs121434542
Exacrs121434542
PheGenIrs121434542
nextbiors121434542
hapmaprs121434542
1000 genomesrs121434542
hgdprs121434542
ensemblrs121434542
gopubmedrs121434542
geneviewrs121434542
scholarrs121434542
googlers121434542
pharmgkbrs121434542
gwascentralrs121434542
openSNPrs121434542
23andMers121434542
23andMe allrs121434542
SNP Nexus

SNPshotrs121434542
SNPdbers121434542
MSV3drs121434542
OMIM114021
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121434542(A;A)
Alt rs121434542(A;A)
Reference rs121434542(G;G)
Significance Pathogenic
Disease Juvenile macular degeneration and hypotrichosis
Variation info
Gene CDH3
CLNDBN Juvenile macular degeneration and hypotrichosis
Reversed 0
HGVS NC_000016.9:g.68719191G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000019206.22,