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rs104894737

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104894737(C;C)
Make rs104894737(C;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position11294790
GeneAMELX, ARHGAP6
is asnp
is mentioned by
dbSNPrs104894737
ebirs104894737
HLIrs104894737
Exacrs104894737
Varsomers104894737
Maprs104894737
PheGenIrs104894737
hapmaprs104894737
1000 genomesrs104894737
hgdprs104894737
ensemblrs104894737
gopubmedrs104894737
geneviewrs104894737
scholarrs104894737
googlers104894737
pharmgkbrs104894737
gwascentralrs104894737
openSNPrs104894737
23andMers104894737
23andMe allrs104894737
SNP Nexus

SNPshotrs104894737
SNPdbers104894737
MSV3drs104894737
GWAS Ctlgrs104894737
Max Magnitude0
OMIM300391
Desc
Variant0010
Relatedalso
ClinVar
Risk rs104894737(C;C)
Alt rs104894737(C;C)
Reference rs104894737(T;T)
Significance Pathogenic
Disease Amelogenesis imperfecta
Variation info
Gene AMELX ARHGAP6
CLNDBN Amelogenesis imperfecta, type 1E
Reversed 0
HGVS NC_000023.10:g.11312910T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000011895.5,