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rs119455950

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs119455950(A;A)
Make rs119455950(A;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position31644800
GeneCOX4I2
is asnp
is mentioned by
dbSNPrs119455950
ebirs119455950
HLIrs119455950
Exacrs119455950
Varsomers119455950
Maprs119455950
PheGenIrs119455950
hapmaprs119455950
1000 genomesrs119455950
hgdprs119455950
ensemblrs119455950
gopubmedrs119455950
geneviewrs119455950
scholarrs119455950
googlers119455950
pharmgkbrs119455950
gwascentralrs119455950
openSNPrs119455950
23andMers119455950
23andMe allrs119455950
SNP Nexus

SNPshotrs119455950
SNPdbers119455950
MSV3drs119455950
GWAS Ctlgrs119455950
GMAF0.0009183
Max Magnitude0
OMIM607976
Desc
Variant0001
Relatedalso
ClinVar
Risk rs119455950(A,T;A,T)
Alt rs119455950(A,T;A,T)
Reference rs119455950(G;G)
Significance Pathogenic
Disease Exocrine pancreatic insufficiency
Variation info
Gene COX4I2
CLNDBN Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis
Reversed 0
HGVS NC_000020.10:g.30232603G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002774.2,