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rs119103236

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs119103236(A;A)
Make rs119103236(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position184245291
GeneALG3
is asnp
is mentioned by
dbSNPrs119103236
dbSNP (classic)rs119103236
ClinGenrs119103236
ebirs119103236
HLIrs119103236
Exacrs119103236
Gnomadrs119103236
Varsomers119103236
LitVarrs119103236
Maprs119103236
PheGenIrs119103236
Biobankrs119103236
1000 genomesrs119103236
hgdprs119103236
ensemblrs119103236
geneviewrs119103236
scholarrs119103236
googlers119103236
pharmgkbrs119103236
gwascentralrs119103236
openSNPrs119103236
23andMers119103236
SNPshotrs119103236
SNPdbers119103236
MSV3drs119103236
GWAS Ctlgrs119103236
Max Magnitude0
OMIM608750
Desc
Variant0003
Relatedalso
ClinVar
Risk rs119103236(A;A) rs119103236(T;T)
Alt rs119103236(A;A) rs119103236(T;T)
Reference Rs119103236(G;G)
Significance Pathogenic
Disease Congenital disorder of glycosylation type 1D
Variation info
Gene ALG3
CLNDBN Congenital disorder of glycosylation type 1D
Reversed 1
HGVS NC_000003.11:g.183963079C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000002211.4,