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rs111996685

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs111996685(A;A)
Make rs111996685(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position240874063
GeneAGXT
is asnp
is mentioned by
dbSNPrs111996685
ebirs111996685
HLIrs111996685
Exacrs111996685
Varsomers111996685
Maprs111996685
PheGenIrs111996685
hapmaprs111996685
1000 genomesrs111996685
hgdprs111996685
ensemblrs111996685
gopubmedrs111996685
geneviewrs111996685
scholarrs111996685
googlers111996685
pharmgkbrs111996685
gwascentralrs111996685
openSNPrs111996685
23andMers111996685
23andMe allrs111996685
SNP Nexus

SNPshotrs111996685
SNPdbers111996685
MSV3drs111996685
GWAS Ctlgrs111996685
Max Magnitude0
ClinVar
Risk rs111996685(A,C;A,C)
Alt rs111996685(A,C;A,C)
Reference rs111996685(G;G)
Significance Pathogenic
Disease Primary hyperoxaluria
Variation info
Gene AGXT
CLNDBN Primary hyperoxaluria, type I
Reversed 0
HGVS NC_000002.11:g.241813480G>A; NC_000002.11:g.241813480G>C
CLNSRC
CLNACC RCV000186361.1, RCV000186360.1,


OMIM259900
Desc
Variant
Relatedalso