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rs104894704

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894704(A;A)
Make rs104894704(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position50908596
GeneKLK4
is asnp
is mentioned by
dbSNPrs104894704
ebirs104894704
HLIrs104894704
Exacrs104894704
Varsomers104894704
Maprs104894704
PheGenIrs104894704
hapmaprs104894704
1000 genomesrs104894704
hgdprs104894704
ensemblrs104894704
gopubmedrs104894704
geneviewrs104894704
scholarrs104894704
googlers104894704
pharmgkbrs104894704
gwascentralrs104894704
openSNPrs104894704
23andMers104894704
23andMe allrs104894704
SNP Nexus

SNPshotrs104894704
SNPdbers104894704
MSV3drs104894704
GWAS Ctlgrs104894704
GMAF0.0009183
Max Magnitude0
OMIM603767
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104894704(A;A)
Alt rs104894704(A;A)
Reference rs104894704(G;G)
Significance Pathogenic
Disease Amelogenesis imperfecta
Variation info
Gene KLK4
CLNDBN Amelogenesis imperfecta, hypomaturation type, IIA1
Reversed 1
HGVS NC_000019.9:g.51411852C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006452.3,