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rs104894736

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894736(A;A)
Make rs104894736(A;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position11298569
GeneAMELX, ARHGAP6
is asnp
is mentioned by
dbSNPrs104894736
dbSNP (classic)rs104894736
ClinGenrs104894736
ebirs104894736
HLIrs104894736
Exacrs104894736
Gnomadrs104894736
Varsomers104894736
LitVarrs104894736
Maprs104894736
PheGenIrs104894736
Biobankrs104894736
1000 genomesrs104894736
hgdprs104894736
ensemblrs104894736
geneviewrs104894736
scholarrs104894736
googlers104894736
pharmgkbrs104894736
gwascentralrs104894736
openSNPrs104894736
23andMers104894736
SNPshotrs104894736
SNPdbers104894736
MSV3drs104894736
GWAS Ctlgrs104894736
Max Magnitude0
OMIM300391
Desc
Variant0007
Relatedalso
ClinVar
Risk rs104894736(A;A)
Alt rs104894736(A;A)
Reference Rs104894736(C;C)
Significance Pathogenic
Disease Amelogenesis imperfecta
Variation info
Gene AMELX ARHGAP6
CLNDBN Amelogenesis imperfecta, type 1E
Reversed 0
HGVS NC_000023.10:g.11316689C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000011892.6,