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rs483352912

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs483352912(C;T)
Make rs483352912(T;T)
ReferenceGRCh38 38.1/142
Chromosome15
Position58679193
GeneADAM10
is asnp
is mentioned by
dbSNPrs483352912
dbSNP (classic)rs483352912
ClinGenrs483352912
ebirs483352912
HLIrs483352912
Exacrs483352912
Gnomadrs483352912
Varsomers483352912
LitVarrs483352912
Maprs483352912
PheGenIrs483352912
Biobankrs483352912
1000 genomesrs483352912
hgdprs483352912
ensemblrs483352912
geneviewrs483352912
scholarrs483352912
googlers483352912
pharmgkbrs483352912
gwascentralrs483352912
openSNPrs483352912
23andMers483352912
SNPshotrs483352912
SNPdbers483352912
MSV3drs483352912
GWAS Ctlgrs483352912
Max Magnitude0
ClinVar
Risk rs483352912(T;T)
Alt rs483352912(T;T)
Reference Rs483352912(C;C)
Significance Pathogenic
Disease Reticulate acropigmentation of Kitamura
Variation info
Gene ADAM10
CLNDBN Reticulate acropigmentation of Kitamura
Reversed 1
HGVS NC_000015.9:g.58971392G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000074427.5,