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rs137854440

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137854440(C;T)
Make rs137854440(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position143727432
GeneFAM83H
is asnp
is mentioned by
dbSNPrs137854440
ebirs137854440
HLIrs137854440
Exacrs137854440
Varsomers137854440
Maprs137854440
PheGenIrs137854440
hapmaprs137854440
1000 genomesrs137854440
hgdprs137854440
ensemblrs137854440
gopubmedrs137854440
geneviewrs137854440
scholarrs137854440
googlers137854440
pharmgkbrs137854440
gwascentralrs137854440
openSNPrs137854440
23andMers137854440
23andMe allrs137854440
SNP Nexus

SNPshotrs137854440
SNPdbers137854440
MSV3drs137854440
GWAS Ctlgrs137854440
Max Magnitude0
OMIM611927
Desc
Variant0006
Relatedalso
ClinVar
Risk rs137854440(T;T)
Alt rs137854440(T;T)
Reference rs137854440(C;C)
Significance Pathogenic
Disease Amelogenesis imperfecta
Variation info
Gene FAM83H
CLNDBN Amelogenesis imperfecta, hypocalcification type
Reversed 1
HGVS NC_000008.10:g.144809602G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000811.3,