Rs104894738

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Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894738(C;C)
Make rs104894738(C;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position11294799
GeneAMELX, ARHGAP6
is asnp
is mentioned by
dbSNPrs104894738
Exacrs104894738
PheGenIrs104894738
nextbiors104894738
hapmaprs104894738
1000 genomesrs104894738
hgdprs104894738
ensemblrs104894738
gopubmedrs104894738
geneviewrs104894738
scholarrs104894738
googlers104894738
pharmgkbrs104894738
gwascentralrs104894738
openSNPrs104894738
23andMers104894738
23andMe allrs104894738
SNP Nexus

SNPshotrs104894738
SNPdbers104894738
MSV3drs104894738
OMIM300391
Desc
Variant0011
Relatedalso
ClinVar
Risk rs104894738(C;C)
Alt rs104894738(C;C)
Reference rs104894738(G;G)
Significance Pathogenic
Disease AMELOGENESIS IMPERFECTA
Variation info
Gene AMELX ARHGAP6
CLNDBN AMELOGENESIS IMPERFECTA, TYPE IE
Reversed 0
HGVS NC_000023.10:g.11312919G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000011896.16,