Rs104894733

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Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894733(C;T)
Make rs104894733(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position11298243
GeneAMELX, ARHGAP6
is asnp
is mentioned by
dbSNPrs104894733
Exacrs104894733
PheGenIrs104894733
nextbiors104894733
hapmaprs104894733
1000 genomesrs104894733
hgdprs104894733
ensemblrs104894733
gopubmedrs104894733
geneviewrs104894733
scholarrs104894733
googlers104894733
pharmgkbrs104894733
gwascentralrs104894733
openSNPrs104894733
23andMers104894733
23andMe allrs104894733
SNP Nexus

SNPshotrs104894733
SNPdbers104894733
MSV3drs104894733
OMIM300391
Desc
Variant0005
Relatedalso
ClinVar
Risk rs104894733(T;T)
Alt rs104894733(T;T)
Reference rs104894733(C;C)
Significance Pathogenic
Disease AMELOGENESIS IMPERFECTA
Variation info
Gene AMELX ARHGAP6
CLNDBN AMELOGENESIS IMPERFECTA, TYPE IE
Reversed 0
HGVS NC_000023.10:g.11316363C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000011890.4,