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rs137854443

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137854443(G;T)
Make rs137854443(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position143727381
GeneFAM83H
is asnp
is mentioned by
dbSNPrs137854443
ebirs137854443
HLIrs137854443
Exacrs137854443
Varsomers137854443
Maprs137854443
PheGenIrs137854443
hapmaprs137854443
1000 genomesrs137854443
hgdprs137854443
ensemblrs137854443
gopubmedrs137854443
geneviewrs137854443
scholarrs137854443
googlers137854443
pharmgkbrs137854443
gwascentralrs137854443
openSNPrs137854443
23andMers137854443
23andMe allrs137854443
SNP Nexus

SNPshotrs137854443
SNPdbers137854443
MSV3drs137854443
GWAS Ctlgrs137854443
Max Magnitude0
OMIM611927
Desc
Variant0009
Relatedalso
ClinVar
Risk rs137854443(T;T)
Alt rs137854443(T;T)
Reference rs137854443(G;G)
Significance Pathogenic
Disease Amelogenesis imperfecta
Variation info
Gene FAM83H
CLNDBN Amelogenesis imperfecta, hypocalcification type
Reversed 1
HGVS NC_000008.10:g.144809551C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000814.2,