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rs387906309

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;TATC) 3 Carrier for a Tay-Sachs mutation
(TATC;TATC) 8.8 Tay-Sachs disease (predicted)
ReferenceGRCh38 38.1/141
Chromosome15
Position72346579
GeneHEXA
is asnp
is mentioned by
dbSNPrs387906309
dbSNP (old)rs387906309
ClinGenrs387906309
ebirs387906309
HLIrs387906309
Exacrs387906309
Gnomadrs387906309
Varsomers387906309
Maprs387906309
PheGenIrs387906309
Biobankrs387906309
1000 genomesrs387906309
hgdprs387906309
ensemblrs387906309
gopubmedrs387906309
geneviewrs387906309
scholarrs387906309
googlers387906309
pharmgkbrs387906309
gwascentralrs387906309
openSNPrs387906309
23andMers387906309
23andMe allrs387906309
SNPshotrs387906309
SNPdbers387906309
MSV3drs387906309
GWAS Ctlgrs387906309
Max Magnitude8.8

rs387906309, also known as c.1274_1277dupTATC or p.Tyr427Ilefs, is a rare variant in the HEXA gene on chromosome 15.

The rs387906309(TATC) variant, when inherited recessively, is considered pathogenic for Tay-Sachs disease. This mutation is considered a founder mutation in several populations, including in Ashkenazi Jews.

23andMe name: i4000391

ClinVar
Risk Rs387906309(TATC;TATC)
Alt Rs387906309(TATC;TATC)
Reference Rs387906309(-;-)
Significance Pathogenic
Disease Tay-Sachs disease not provided
Variation info
Gene HEXA
CLNDBN Tay-Sachs disease not provided
Reversed 1
HGVS NC_000015.9:g.72638921_72638924dupGATA
CLNSRC OMIM Allelic Variant
CLNACC RCV000004093.9, RCV000224443.1,