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rs387906488

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TTTTATTTG;TTTTATTTG) 0 common in clinvar
Make rs387906488(-;-)
Make rs387906488(-;TTTTATTTG)
ReferenceGRCh38 38.1/141
ChromosomeX
Position11294802
GeneAMELX, ARHGAP6
is asnp
is mentioned by
dbSNPrs387906488
ebirs387906488
HLIrs387906488
Exacrs387906488
Varsomers387906488
Maprs387906488
PheGenIrs387906488
hapmaprs387906488
1000 genomesrs387906488
hgdprs387906488
ensemblrs387906488
gopubmedrs387906488
geneviewrs387906488
scholarrs387906488
googlers387906488
pharmgkbrs387906488
gwascentralrs387906488
openSNPrs387906488
23andMers387906488
23andMe allrs387906488
SNP Nexus

SNPshotrs387906488
SNPdbers387906488
MSV3drs387906488
GWAS Ctlgrs387906488
Max Magnitude0
ClinVar
Risk rs387906488(;)
Alt rs387906488(;)
Reference rs387906488(TTTTATTTG;TTTTATTTG)
Significance Pathogenic
Disease Amelogenesis imperfecta
Variation info
Gene AMELX ARHGAP6
CLNDBN Amelogenesis imperfecta, type 1E
Reversed 0
HGVS NC_000023.10:g.11312922_11312930delTTTTATTTG
CLNSRC OMIM Allelic Variant
CLNACC RCV000011888.17,