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rs397518462

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397518462(A;A)
Make rs397518462(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position219504138
GeneGMPPA
is asnp
is mentioned by
dbSNPrs397518462
ebirs397518462
HLIrs397518462
Exacrs397518462
Varsomers397518462
Maprs397518462
PheGenIrs397518462
hapmaprs397518462
1000 genomesrs397518462
hgdprs397518462
ensemblrs397518462
gopubmedrs397518462
geneviewrs397518462
scholarrs397518462
googlers397518462
pharmgkbrs397518462
gwascentralrs397518462
openSNPrs397518462
23andMers397518462
23andMe allrs397518462
SNP Nexus

SNPshotrs397518462
SNPdbers397518462
MSV3drs397518462
GWAS Ctlgrs397518462
Max Magnitude0
ClinVar
Risk rs397518462(A;A)
Alt rs397518462(A;A)
Reference rs397518462(G;G)
Significance Pathogenic
Disease Alacrima
Variation info
Gene GMPPA
CLNDBN Alacrima, achalasia, and mental retardation syndrome
Reversed 0
HGVS NC_000002.11:g.220368860G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000074376.2,