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rs730880304

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs730880304(G;T)
Make rs730880304(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome9
Position99218792
GeneALG2
is asnp
is mentioned by
dbSNPrs730880304
ebirs730880304
HLIrs730880304
Exacrs730880304
Varsomers730880304
Maprs730880304
PheGenIrs730880304
hapmaprs730880304
1000 genomesrs730880304
hgdprs730880304
ensemblrs730880304
gopubmedrs730880304
geneviewrs730880304
scholarrs730880304
googlers730880304
pharmgkbrs730880304
gwascentralrs730880304
openSNPrs730880304
23andMers730880304
23andMe allrs730880304
SNP Nexus

SNPshotrs730880304
SNPdbers730880304
MSV3drs730880304
GWAS Ctlgrs730880304
Max Magnitude0
ClinVar
Risk rs730880304(T;T)
Alt rs730880304(T;T)
Reference rs730880304(G;G)
Significance Pathogenic
Disease Congenital disorder of glycosylation type 1I
Variation info
Gene ALG2
CLNDBN Congenital disorder of glycosylation type 1I
Reversed 1
HGVS NC_000009.11:g.101981074C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002819.3,