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rs483352916

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs483352916(A;A)
Make rs483352916(A;G)
ReferenceGRCh38 38.1/142
Chromosome15
Position58611932
GeneADAM10
is asnp
is mentioned by
dbSNPrs483352916
dbSNP (classic)rs483352916
ClinGenrs483352916
ebirs483352916
HLIrs483352916
Exacrs483352916
Gnomadrs483352916
Varsomers483352916
LitVarrs483352916
Maprs483352916
PheGenIrs483352916
Biobankrs483352916
1000 genomesrs483352916
hgdprs483352916
ensemblrs483352916
geneviewrs483352916
scholarrs483352916
googlers483352916
pharmgkbrs483352916
gwascentralrs483352916
openSNPrs483352916
23andMers483352916
SNPshotrs483352916
SNPdbers483352916
MSV3drs483352916
GWAS Ctlgrs483352916
Max Magnitude0
ClinVar
Risk rs483352916(A;A)
Alt rs483352916(A;A)
Reference Rs483352916(G;G)
Significance Pathogenic
Disease Reticulate acropigmentation of Kitamura
Variation info
Gene ADAM10
CLNDBN Reticulate acropigmentation of Kitamura
Reversed 1
HGVS NC_000015.9:g.58904131C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000074431.4,