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rs397518461

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397518461(A;C)
Make rs397518461(C;C)
ReferenceGRCh38 38.1/141
Chromosome2
Position219506260
GeneGMPPA
is asnp
is mentioned by
dbSNPrs397518461
ebirs397518461
HLIrs397518461
Exacrs397518461
Varsomers397518461
Maprs397518461
PheGenIrs397518461
hapmaprs397518461
1000 genomesrs397518461
hgdprs397518461
ensemblrs397518461
gopubmedrs397518461
geneviewrs397518461
scholarrs397518461
googlers397518461
pharmgkbrs397518461
gwascentralrs397518461
openSNPrs397518461
23andMers397518461
23andMe allrs397518461
SNP Nexus

SNPshotrs397518461
SNPdbers397518461
MSV3drs397518461
GWAS Ctlgrs397518461
Max Magnitude0
ClinVar
Risk rs397518461(C;C)
Alt rs397518461(C;C)
Reference rs397518461(A;A)
Significance Pathogenic
Disease Alacrima
Variation info
Gene GMPPA
CLNDBN Alacrima, achalasia, and mental retardation syndrome
Reversed 0
HGVS NC_000002.11:g.220370982A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000074375.2,