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rs153477

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs153477(A;G)
Make rs153477(G;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position151259848
GeneGM2A
is asnp
is mentioned by
dbSNPrs153477
ebirs153477
HLIrs153477
Exacrs153477
Varsomers153477
Maprs153477
PheGenIrs153477
hapmaprs153477
1000 genomesrs153477
hgdprs153477
ensemblrs153477
gopubmedrs153477
geneviewrs153477
scholarrs153477
googlers153477
pharmgkbrs153477
gwascentralrs153477
openSNPrs153477
23andMers153477
23andMe allrs153477
SNP Nexus

SNPshotrs153477
SNPdbers153477
MSV3drs153477
GWAS Ctlgrs153477
GMAF0.3618
Max Magnitude0
? (A;A) (A;G) (G;G) 28
Venter snp
Source plos
Gene GM2A
allele G
frequency 0.667
sift TOLERATED
HuRef 1103654257881
Disease Association Defects in GM2A are the cause of Tay-Sachs disease AB variant (TSD-AB) (MIM:272750); also known as GM2-gangliosidosis type AB.



Neighborrs153478
Distance30


GET Evidence
GM2A-I59V
aa_change Ile59Val
aa_change_short I59V
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.605689
summary



ClinVar
Risk rs153477(G;G)
Alt rs153477(G;G)
Reference rs153477(A;A)
Significance Non-pathogenic
Disease not specified
Variation info
Gene GM2A
CLNDBN not specified
Reversed 0
HGVS NC_000005.9:g.150639409A>G
CLNSRC
CLNACC RCV000153332.3,