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rs769193201

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs769193201(A;A)
Make rs769193201(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position155318292
GeneFDPS
is asnp
is mentioned by
dbSNPrs769193201
dbSNP (classic)rs769193201
ClinGenrs769193201
ebirs769193201
HLIrs769193201
Exacrs769193201
Gnomadrs769193201
Varsomers769193201
LitVarrs769193201
Maprs769193201
PheGenIrs769193201
Biobankrs769193201
1000 genomesrs769193201
hgdprs769193201
ensemblrs769193201
geneviewrs769193201
scholarrs769193201
googlers769193201
pharmgkbrs769193201
gwascentralrs769193201
openSNPrs769193201
23andMers769193201
SNPshotrs769193201
SNPdbers769193201
MSV3drs769193201
GWAS Ctlgrs769193201
Max Magnitude0
ClinVar
Risk rs769193201(A;A) rs769193201(T;T)
Alt rs769193201(A;A) rs769193201(T;T)
Reference Rs769193201(G;G)
Significance Pathogenic
Disease Porokeratosis 9
Variation info
Gene FDPS
CLNDBN Porokeratosis 9, multiple types
Reversed 0
HGVS NC_000001.10:g.155288083G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000201790.4,