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rs397515423

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397515423(C;T)
Make rs397515423(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position63654374
GenePGM1
is asnp
is mentioned by
dbSNPrs397515423
ebirs397515423
HLIrs397515423
Exacrs397515423
Varsomers397515423
Maprs397515423
PheGenIrs397515423
hapmaprs397515423
1000 genomesrs397515423
hgdprs397515423
ensemblrs397515423
gopubmedrs397515423
geneviewrs397515423
scholarrs397515423
googlers397515423
pharmgkbrs397515423
gwascentralrs397515423
openSNPrs397515423
23andMers397515423
23andMe allrs397515423
SNP Nexus

SNPshotrs397515423
SNPdbers397515423
MSV3drs397515423
GWAS Ctlgrs397515423
Max Magnitude0
ClinVar
Risk rs397515423(T;T)
Alt rs397515423(T;T)
Reference rs397515423(C;C)
Significance Pathogenic
Disease Congenital disorder of glycosylation type 1t
Variation info
Gene PGM1
CLNDBN Congenital disorder of glycosylation type 1t
Reversed 0
HGVS NC_000001.10:g.64120045C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000032991.26,