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rs137854438

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137854438(A;A)
Make rs137854438(A;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position143728570
GeneFAM83H
is asnp
is mentioned by
dbSNPrs137854438
ebirs137854438
HLIrs137854438
Exacrs137854438
Varsomers137854438
Maprs137854438
PheGenIrs137854438
hapmaprs137854438
1000 genomesrs137854438
hgdprs137854438
ensemblrs137854438
gopubmedrs137854438
geneviewrs137854438
scholarrs137854438
googlers137854438
pharmgkbrs137854438
gwascentralrs137854438
openSNPrs137854438
23andMers137854438
23andMe allrs137854438
SNP Nexus

SNPshotrs137854438
SNPdbers137854438
MSV3drs137854438
GWAS Ctlgrs137854438
Max Magnitude0
OMIM611927
Desc
Variant0004
Relatedalso
ClinVar
Risk rs137854438(A;A)
Alt rs137854438(A;A)
Reference rs137854438(T;T)
Significance Pathogenic
Disease Amelogenesis imperfecta
Variation info
Gene FAM83H
CLNDBN Amelogenesis imperfecta, hypocalcification type
Reversed 1
HGVS NC_000008.10:g.144810740A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000809.2,