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rs119455951

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs119455951(G;T)
Make rs119455951(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position170539515
GeneGORAB
is asnp
is mentioned by
dbSNPrs119455951
ebirs119455951
HLIrs119455951
Exacrs119455951
Varsomers119455951
Maprs119455951
PheGenIrs119455951
hapmaprs119455951
1000 genomesrs119455951
hgdprs119455951
ensemblrs119455951
gopubmedrs119455951
geneviewrs119455951
scholarrs119455951
googlers119455951
pharmgkbrs119455951
gwascentralrs119455951
openSNPrs119455951
23andMers119455951
23andMe allrs119455951
SNP Nexus

SNPshotrs119455951
SNPdbers119455951
MSV3drs119455951
GWAS Ctlgrs119455951
Max Magnitude0
OMIM607983
Desc
Variant0001
Relatedalso
ClinVar
Risk rs119455951(T;T)
Alt rs119455951(T;T)
Reference rs119455951(G;G)
Significance Pathogenic
Disease Geroderma osteodysplastica
Variation info
Gene GORAB
CLNDBN Geroderma osteodysplastica
Reversed 0
HGVS NC_000001.10:g.170508656G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002769.2,