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rs387906949

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387906949(A;A)
Make rs387906949(A;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position72375800
GeneC15orf34, HEXA
is asnp
is mentioned by
dbSNPrs387906949
ebirs387906949
HLIrs387906949
Exacrs387906949
Varsomers387906949
Maprs387906949
PheGenIrs387906949
hapmaprs387906949
1000 genomesrs387906949
hgdprs387906949
ensemblrs387906949
gopubmedrs387906949
geneviewrs387906949
scholarrs387906949
googlers387906949
pharmgkbrs387906949
gwascentralrs387906949
openSNPrs387906949
23andMers387906949
23andMe allrs387906949
SNP Nexus

SNPshotrs387906949
SNPdbers387906949
MSV3drs387906949
GWAS Ctlgrs387906949
Max Magnitude0
ClinVar
Risk rs387906949(A,T;A,T)
Alt rs387906949(A,T;A,T)
Reference rs387906949(G;G)
Significance Pathogenic
Disease Tay-Sachs disease
Variation info
Gene HEXA-AS1 HEXA
CLNDBN Tay-Sachs disease
Reversed 1
HGVS NC_000015.9:g.72668141C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000023580.3,