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rs137854444

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137854444(A;A)
Make rs137854444(A;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position143728082
GeneFAM83H
is asnp
is mentioned by
dbSNPrs137854444
ebirs137854444
HLIrs137854444
Exacrs137854444
Varsomers137854444
Maprs137854444
PheGenIrs137854444
hapmaprs137854444
1000 genomesrs137854444
hgdprs137854444
ensemblrs137854444
gopubmedrs137854444
geneviewrs137854444
scholarrs137854444
googlers137854444
pharmgkbrs137854444
gwascentralrs137854444
openSNPrs137854444
23andMers137854444
23andMe allrs137854444
SNP Nexus

SNPshotrs137854444
SNPdbers137854444
MSV3drs137854444
GWAS Ctlgrs137854444
Max Magnitude0
OMIM611927
Desc
Variant0012
Relatedalso
ClinVar
Risk rs137854444(A;A)
Alt rs137854444(A;A)
Reference rs137854444(G;G)
Significance Pathogenic
Disease Amelogenesis imperfecta
Variation info
Gene FAM83H
CLNDBN Amelogenesis imperfecta, hypocalcification type
Reversed 1
HGVS NC_000008.10:g.144810252C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000817.2,