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rs137854439

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137854439(A;A)
Make rs137854439(A;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position143728081
GeneFAM83H
is asnp
is mentioned by
dbSNPrs137854439
ebirs137854439
HLIrs137854439
Exacrs137854439
Varsomers137854439
Maprs137854439
PheGenIrs137854439
hapmaprs137854439
1000 genomesrs137854439
hgdprs137854439
ensemblrs137854439
gopubmedrs137854439
geneviewrs137854439
scholarrs137854439
googlers137854439
pharmgkbrs137854439
gwascentralrs137854439
openSNPrs137854439
23andMers137854439
23andMe allrs137854439
SNP Nexus

SNPshotrs137854439
SNPdbers137854439
MSV3drs137854439
GWAS Ctlgrs137854439
Max Magnitude0
OMIM611927
Desc
Variant0005
Relatedalso
ClinVar
Risk rs137854439(A,C;A,C)
Alt rs137854439(A,C;A,C)
Reference rs137854439(G;G)
Significance Pathogenic
Disease Amelogenesis imperfecta
Variation info
Gene FAM83H
CLNDBN Amelogenesis imperfecta, hypocalcification type
Reversed 1
HGVS NC_000008.10:g.144810251C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000810.2,