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rs183596463

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs183596463(G;T)
Make rs183596463(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position170544841
GeneGORAB
is asnp
is mentioned by
dbSNPrs183596463
ebirs183596463
HLIrs183596463
Exacrs183596463
Varsomers183596463
Maprs183596463
PheGenIrs183596463
hapmaprs183596463
1000 genomesrs183596463
hgdprs183596463
ensemblrs183596463
gopubmedrs183596463
geneviewrs183596463
scholarrs183596463
googlers183596463
pharmgkbrs183596463
gwascentralrs183596463
openSNPrs183596463
23andMers183596463
23andMe allrs183596463
SNP Nexus

SNPshotrs183596463
SNPdbers183596463
MSV3drs183596463
GWAS Ctlgrs183596463
Max Magnitude0
ClinVar
Risk rs183596463(A,T;A,T)
Alt rs183596463(A,T;A,T)
Reference rs183596463(G;G)
Significance Pathogenic
Disease Geroderma osteodysplastica
Variation info
Gene GORAB
CLNDBN Geroderma osteodysplastica
Reversed 0
HGVS NC_000001.10:g.170513982G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000202357.1,