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rs797044644

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797044644(-;CAAGTGCTGTTGG)
Make rs797044644(CAAGTGCTGTTGG;CAAGTGCTGTTGG)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position74720663
GeneHEXB
is asnp
is mentioned by
dbSNPrs797044644
dbSNP (old)rs797044644
ClinGenrs797044644
ebirs797044644
HLIrs797044644
Exacrs797044644
Gnomadrs797044644
Varsomers797044644
Maprs797044644
PheGenIrs797044644
Biobankrs797044644
1000 genomesrs797044644
hgdprs797044644
ensemblrs797044644
gopubmedrs797044644
geneviewrs797044644
scholarrs797044644
googlers797044644
pharmgkbrs797044644
gwascentralrs797044644
openSNPrs797044644
23andMers797044644
23andMe allrs797044644
SNP Nexus

SNPshotrs797044644
SNPdbers797044644
MSV3drs797044644
GWAS Ctlgrs797044644
Max Magnitude0
ClinVar
Risk rs797044644(GGCAAGTGCTGTT;GGCAAGTGCTGTT)
Alt rs797044644(GGCAAGTGCTGTT;GGCAAGTGCTGTT)
Reference Rs797044644(-;-)
Significance Pathogenic
Disease Sandhoff disease
Variation info
Gene HEXB
CLNDBN Sandhoff disease
Reversed 0
HGVS NC_000005.9:g.74016476_74016488dupCAAGTGCTGTTGG
CLNSRC
CLNACC RCV000174487.1,