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rs137854435

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137854435(C;T)
Make rs137854435(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position143728488
GeneFAM83H
is asnp
is mentioned by
dbSNPrs137854435
ebirs137854435
HLIrs137854435
Exacrs137854435
Varsomers137854435
Maprs137854435
PheGenIrs137854435
hapmaprs137854435
1000 genomesrs137854435
hgdprs137854435
ensemblrs137854435
gopubmedrs137854435
geneviewrs137854435
scholarrs137854435
googlers137854435
pharmgkbrs137854435
gwascentralrs137854435
openSNPrs137854435
23andMers137854435
23andMe allrs137854435
SNP Nexus

SNPshotrs137854435
SNPdbers137854435
MSV3drs137854435
GWAS Ctlgrs137854435
Max Magnitude0
OMIM611927
Desc
Variant0001
Relatedalso
ClinVar
Risk rs137854435(T;T)
Alt rs137854435(T;T)
Reference rs137854435(C;C)
Significance Pathogenic
Disease Amelogenesis imperfecta
Variation info
Gene FAM83H
CLNDBN Amelogenesis imperfecta, hypocalcification type
Reversed 1
HGVS NC_000008.10:g.144810658G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000806.3,