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rs3021119

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs3021119(A;A)
Make rs3021119(A;C)
ReferenceGRCh38 38.1/141
Chromosome14
Position24098289
GeneNRL, PCK2
is asnp
is mentioned by
dbSNPrs3021119
ebirs3021119
HLIrs3021119
Exacrs3021119
Varsomers3021119
Maprs3021119
PheGenIrs3021119
hapmaprs3021119
1000 genomesrs3021119
hgdprs3021119
ensemblrs3021119
gopubmedrs3021119
geneviewrs3021119
scholarrs3021119
googlers3021119
pharmgkbrs3021119
gwascentralrs3021119
openSNPrs3021119
23andMers3021119
23andMe allrs3021119
SNP Nexus

SNPshotrs3021119
SNPdbers3021119
MSV3drs3021119
GWAS Ctlgrs3021119
Max Magnitude0
? (A;A) (A;C) (C;C) 28
Venter snp
Source plos
Gene PCK2
allele C
frequency 1
sift TOLERATED
HuRef 1103649011137
Disease Association Defects in PCK2 are the cause of phosphoenolpyruvate carboxykinase deficiency (MIM:261650). This defect leads to hypoglycemia.



GET Evidence
PCK2-Q121P
aa_change Gln121Pro
aa_change_short Q121P
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 1
summary