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rs397518460

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397518460(C;T)
Make rs397518460(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position219501903
GeneGMPPA
is asnp
is mentioned by
dbSNPrs397518460
ebirs397518460
HLIrs397518460
Exacrs397518460
Varsomers397518460
Maprs397518460
PheGenIrs397518460
hapmaprs397518460
1000 genomesrs397518460
hgdprs397518460
ensemblrs397518460
gopubmedrs397518460
geneviewrs397518460
scholarrs397518460
googlers397518460
pharmgkbrs397518460
gwascentralrs397518460
openSNPrs397518460
23andMers397518460
23andMe allrs397518460
SNP Nexus

SNPshotrs397518460
SNPdbers397518460
MSV3drs397518460
GWAS Ctlgrs397518460
Max Magnitude0
ClinVar
Risk rs397518460(T;T)
Alt rs397518460(T;T)
Reference rs397518460(C;C)
Significance Pathogenic
Disease Alacrima
Variation info
Gene GMPPA
CLNDBN Alacrima, achalasia, and mental retardation syndrome
Reversed 0
HGVS NC_000002.11:g.220366625C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000074374.2,