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rs786204825

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs786204825(-;-)
Make rs786204825(-;G)
ReferenceGRCh38.p2 38.2/146
Chromosome19
Position50908809
GeneKLK4
is asnp
is mentioned by
dbSNPrs786204825
dbSNP (classic)rs786204825
ClinGenrs786204825
ebirs786204825
HLIrs786204825
Exacrs786204825
Gnomadrs786204825
Varsomers786204825
LitVarrs786204825
Maprs786204825
PheGenIrs786204825
Biobankrs786204825
1000 genomesrs786204825
hgdprs786204825
ensemblrs786204825
geneviewrs786204825
scholarrs786204825
googlers786204825
pharmgkbrs786204825
gwascentralrs786204825
openSNPrs786204825
23andMers786204825
SNPshotrs786204825
SNPdbers786204825
MSV3drs786204825
GWAS Ctlgrs786204825
Max Magnitude0
ClinVar
Risk rs786204825(-;-)
Alt rs786204825(-;-)
Reference Rs786204825(G;G)
Significance Pathogenic
Disease Amelogenesis imperfecta
Variation info
Gene KLK4
CLNDBN Amelogenesis imperfecta, hypomaturation type, IIA1
Reversed 1
HGVS NC_000019.9:g.51412065delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000169728.3,