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

rs1800431

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs1800431(A;A)
Make rs1800431(A;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position72346551
GeneHEXA
is asnp
is mentioned by
dbSNPrs1800431
ebirs1800431
HLIrs1800431
Exacrs1800431
Varsomers1800431
Maprs1800431
PheGenIrs1800431
hapmaprs1800431
1000 genomesrs1800431
hgdprs1800431
ensemblrs1800431
gopubmedrs1800431
geneviewrs1800431
scholarrs1800431
googlers1800431
pharmgkbrs1800431
gwascentralrs1800431
openSNPrs1800431
23andMers1800431
23andMe allrs1800431
SNP Nexus

SNPshotrs1800431
SNPdbers1800431
MSV3drs1800431
GWAS Ctlgrs1800431
GMAF0.101
Max Magnitude0
? (A;A) (A;G) (G;G) 28
Venter snp
Source plos
Gene BRUNOL6
allele C
frequency 1
sift TOLERATED
HuRef 1103645651075
Disease Association Defects in HEXA are the cause of Tay-Sachs disease (TSD) (MIM:272800); also known as GM2-gangliosidosis type I. TSD is an autosomal recessive lysosomal storage disorder that has an increased incidence among Ashkenazi Jews and French Canadians in eastern Quebec. GM2 ganglioside accumulates in the absence of HEXA activity, leading to neurodegeneration and, in the infantile form of TSD, death in early childhood. The disease exists in several phenotypes: infantile (most common and most severe), juvenile and adult (late onset).



Neighborrs28940871
Distance246


GET Evidence
HEXA-I436V
aa_change Ile436Val
aa_change_short I436V
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.866704
summary



ClinVar
Risk rs1800431(G;G)
Alt rs1800431(G;G)
Reference rs1800431(A;A)
Significance Other
Disease not specified
Variation info
Gene HEXA
CLNDBN not specified
Reversed 1
HGVS NC_000015.9:g.72638892T>C
CLNSRC ClinVar Emory University University of Chicago
CLNACC RCV000079049.7,