Have questions? Visit https://www.reddit.com/r/SNPedia

rs1800429

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1800429(A;A)
Make rs1800429(A;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position72351207
GeneHEXA
is asnp
is mentioned by
dbSNPrs1800429
ebirs1800429
HLIrs1800429
Exacrs1800429
Varsomers1800429
Maprs1800429
PheGenIrs1800429
hapmaprs1800429
1000 genomesrs1800429
hgdprs1800429
ensemblrs1800429
gopubmedrs1800429
geneviewrs1800429
scholarrs1800429
googlers1800429
pharmgkbrs1800429
gwascentralrs1800429
openSNPrs1800429
23andMers1800429
23andMe allrs1800429
SNP Nexus

SNPshotrs1800429
SNPdbers1800429
MSV3drs1800429
GWAS Ctlgrs1800429
Max Magnitude0
OMIM606869
Desc
Variant0036
Relatedalso
ClinVar
Risk rs1800429(A;A)
Alt rs1800429(A;A)
Reference rs1800429(G;G)
Significance Pathogenic
Disease Tay-Sachs disease
Variation info
Gene HEXA
CLNDBN Tay-Sachs disease, B1 variant
Reversed 1
HGVS NC_000015.9:g.72643548C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004129.2,