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rs1060502981

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1060502981(A;G)
Make rs1060502981(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome16
Position4801587
GeneROGDI
is asnp
is mentioned by
dbSNPrs1060502981
dbSNP (classic)rs1060502981
ClinGenrs1060502981
ebirs1060502981
HLIrs1060502981
Exacrs1060502981
Gnomadrs1060502981
Varsomers1060502981
LitVarrs1060502981
Maprs1060502981
PheGenIrs1060502981
Biobankrs1060502981
1000 genomesrs1060502981
hgdprs1060502981
ensemblrs1060502981
geneviewrs1060502981
scholarrs1060502981
googlers1060502981
pharmgkbrs1060502981
gwascentralrs1060502981
openSNPrs1060502981
23andMers1060502981
SNPshotrs1060502981
SNPdbers1060502981
MSV3drs1060502981
GWAS Ctlgrs1060502981
Max Magnitude0
ClinVar
Risk rs1060502981(G;G)
Alt rs1060502981(G;G)
Reference Rs1060502981(A;A)
Significance Probable-Pathogenic
Disease Kohlschutter's syndrome
Variation info
Gene ROGDI
CLNDBN Kohlschutter's syndrome
Reversed 1
HGVS NC_000016.9:g.4851588T>C
CLNSRC
CLNACC RCV000471198.1,