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rs104894734

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894734(G;T)
Make rs104894734(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position11298932
GeneAMELX, ARHGAP6
is asnp
is mentioned by
dbSNPrs104894734
dbSNP (classic)rs104894734
ClinGenrs104894734
ebirs104894734
HLIrs104894734
Exacrs104894734
Gnomadrs104894734
Varsomers104894734
LitVarrs104894734
Maprs104894734
PheGenIrs104894734
Biobankrs104894734
1000 genomesrs104894734
hgdprs104894734
ensemblrs104894734
geneviewrs104894734
scholarrs104894734
googlers104894734
pharmgkbrs104894734
gwascentralrs104894734
openSNPrs104894734
23andMers104894734
SNPshotrs104894734
SNPdbers104894734
MSV3drs104894734
GWAS Ctlgrs104894734
Max Magnitude0
OMIM300391
Desc
Variant0006
Relatedalso
ClinVar
Risk rs104894734(A;A) rs104894734(T;T)
Alt rs104894734(A;A) rs104894734(T;T)
Reference Rs104894734(G;G)
Significance Pathogenic
Disease Amelogenesis imperfecta
Variation info
Gene AMELX ARHGAP6
CLNDBN Amelogenesis imperfecta, type 1E
Reversed 0
HGVS NC_000023.10:g.11317052G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000011891.5,