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rs146238585

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs146238585(C;C)
Make rs146238585(C;G)
ReferenceGRCh38.p7 38.3/150
Chromosome4
Position70602623
GeneAMBN
is asnp
is mentioned by
dbSNPrs146238585
dbSNP (old)rs146238585
ClinGenrs146238585
ebirs146238585
HLIrs146238585
Exacrs146238585
Gnomadrs146238585
Varsomers146238585
Maprs146238585
PheGenIrs146238585
Biobankrs146238585
1000 genomesrs146238585
hgdprs146238585
ensemblrs146238585
gopubmedrs146238585
geneviewrs146238585
scholarrs146238585
googlers146238585
pharmgkbrs146238585
gwascentralrs146238585
openSNPrs146238585
23andMers146238585
23andMe allrs146238585
SNPshotrs146238585
SNPdbers146238585
MSV3drs146238585
GWAS Ctlgrs146238585
Max Magnitude0
ClinVar
Risk rs146238585(A;A) rs146238585(C;C)
Alt rs146238585(A;A) rs146238585(C;C)
Reference Rs146238585(G;G)
Significance Pathogenic
Disease Amelogenesis imperfecta
Variation info
Gene AMBN
CLNDBN Amelogenesis imperfecta, type IF
Reversed 0
HGVS NC_000004.11:g.71468340G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000412617.1,