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rs797044434

From SNPedia

Orientationminus
Make rs797044434(-;-)
Make rs797044434(-;GAG)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position72349101
GeneHEXA
is asnp
is mentioned by
dbSNPrs797044434
ebirs797044434
HLIrs797044434
Exacrs797044434
Varsomers797044434
Maprs797044434
PheGenIrs797044434
hapmaprs797044434
1000 genomesrs797044434
hgdprs797044434
ensemblrs797044434
gopubmedrs797044434
geneviewrs797044434
scholarrs797044434
googlers797044434
pharmgkbrs797044434
gwascentralrs797044434
openSNPrs797044434
23andMers797044434
23andMe allrs797044434
SNP Nexus

SNPshotrs797044434
SNPdbers797044434
MSV3drs797044434
GWAS Ctlgrs797044434
Max Magnitude
ClinVar
Risk rs797044434(;)
Alt rs797044434(;)
Reference rs797044434(GAG;GAG)
Significance Pathogenic
Disease Tay-Sachs disease
Variation info
Gene HEXA
CLNDBN Tay-Sachs disease, B1 variant
Reversed 1
HGVS NC_000015.9:g.72641442_72641444delCTC
CLNSRC OMIM Allelic Variant
CLNACC RCV000004127.2,