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rs137854442

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137854442(A;A)
Make rs137854442(A;C)
ReferenceGRCh38 38.1/141
Chromosome8
Position143728601
GeneFAM83H
is asnp
is mentioned by
dbSNPrs137854442
ebirs137854442
HLIrs137854442
Exacrs137854442
Varsomers137854442
Maprs137854442
PheGenIrs137854442
hapmaprs137854442
1000 genomesrs137854442
hgdprs137854442
ensemblrs137854442
gopubmedrs137854442
geneviewrs137854442
scholarrs137854442
googlers137854442
pharmgkbrs137854442
gwascentralrs137854442
openSNPrs137854442
23andMers137854442
23andMe allrs137854442
SNP Nexus

SNPshotrs137854442
SNPdbers137854442
MSV3drs137854442
GWAS Ctlgrs137854442
Max Magnitude0
OMIM611927
Desc
Variant0008
Relatedalso
ClinVar
Risk rs137854442(A,T;A,T)
Alt rs137854442(A,T;A,T)
Reference rs137854442(C;C)
Significance Pathogenic
Disease Amelogenesis imperfecta
Variation info
Gene FAM83H
CLNDBN Amelogenesis imperfecta, hypocalcification type
Reversed 1
HGVS NC_000008.10:g.144810771G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000813.2,