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rs119455952

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs119455952(C;T)
Make rs119455952(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position170552136
GeneGORAB
is asnp
is mentioned by
dbSNPrs119455952
ebirs119455952
HLIrs119455952
Exacrs119455952
Varsomers119455952
Maprs119455952
PheGenIrs119455952
hapmaprs119455952
1000 genomesrs119455952
hgdprs119455952
ensemblrs119455952
gopubmedrs119455952
geneviewrs119455952
scholarrs119455952
googlers119455952
pharmgkbrs119455952
gwascentralrs119455952
openSNPrs119455952
23andMers119455952
23andMe allrs119455952
SNP Nexus

SNPshotrs119455952
SNPdbers119455952
MSV3drs119455952
GWAS Ctlgrs119455952
Max Magnitude0
OMIM607983
Desc
Variant0003
Relatedalso
ClinVar
Risk rs119455952(T;T)
Alt rs119455952(T;T)
Reference rs119455952(C;C)
Significance Pathogenic
Disease Geroderma osteodysplastica
Variation info
Gene GORAB
CLNDBN Geroderma osteodysplastica
Reversed 0
HGVS NC_000001.10:g.170521277C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002771.3,