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rs138058578

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 2 likely to lead to a false positive blood test for Tay Sachs
(A;G) 2 likely to lead to a false positive blood test for Tay Sachs
(G;G) 0 common/normal
ReferenceGRCh38 38.1/142
Chromosome15
Position72350578
GeneHEXA
is asnp
is mentioned by
dbSNPrs138058578
ebirs138058578
HLIrs138058578
Exacrs138058578
Varsomers138058578
Maprs138058578
PheGenIrs138058578
hapmaprs138058578
1000 genomesrs138058578
hgdprs138058578
ensemblrs138058578
gopubmedrs138058578
geneviewrs138058578
scholarrs138058578
googlers138058578
pharmgkbrs138058578
gwascentralrs138058578
openSNPrs138058578
23andMers138058578
23andMe allrs138058578
SNP Nexus

SNPshotrs138058578
SNPdbers138058578
MSV3drs138058578
GWAS Ctlgrs138058578
Max Magnitude2
This SNP is associated with a change in the protein encoded by the HEXA gene, which leads to a false positive blood test for Tay-Sachs Disease. In other words, the blood test from an individual with a rs138058578(A) allele will indicate the person is a carrier for Tay Sachs disease, even though this SNP is not actually one that leads to the disease. Note however that the person may still carry (on their other chromosome 15) a "true" Tay Sachs causing allele.
ClinVar
Risk rs138058578(A;A)
Alt rs138058578(A;A)
Reference rs138058578(G;G)
Significance Other
Disease Tay-Sachs disease
Variation info
Gene HEXA
CLNDBN Tay-Sachs disease
Reversed 0
HGVS NC_000015.9:g.72642919G>A
CLNSRC Partners HealthCare Personalized Medicine
CLNACC RCV000190592.1,