{{Rsnum
|rsid=153478
|Gene=GM2A
|Chromosome=5
|position=151259878
|Orientation=plus
|ReferenceAllele=A
|MissenseAllele=G
|GMAF=0.185
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=GM2A
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 8.9 | 42.9 | 48.2
| HCB | 0.0 | 0.0 | 100.0
| JPT | 0.0 | 0.0 | 100.0
| YRI | 1.4 | 21.8 | 76.9
| ASW | 1.8 | 38.6 | 59.6
| CHB | 0.0 | 0.0 | 100.0
| CHD | 0.0 | 0.9 | 99.1
| GIH | 1.0 | 12.9 | 86.1
| LWK | 4.6 | 21.3 | 74.1
| MEX | 5.3 | 35.1 | 59.6
| MKK | 3.2 | 27.7 | 69.0
| TSI | 12.7 | 39.2 | 48.0
| HapMapRevision=28
}}{{Venter SNP
|rsid=153478
|allele=G
|frequency=0.7
|uid=1103654257882
|type=homozygous_SNP
|hugo=GM2A
|ensembl gene=ENSG00000196743
|ensembl transcript=ENST00000357164
|sift=TOLERATED
|disease=Defects in GM2A are the cause of Tay-Sachs disease AB variant (TSD-AB) (MIM:272750); also known as GM2-gangliosidosis type AB.
}}

{{ neighbor
| rsid = 153477
| distance = 30
}}

{{GET Evidence
|gene=GM2A
|aa_change=Met69Val
|aa_change_short=M69V
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs153478
|overall_frequency_n=7765
|overall_frequency_d=10758
|overall_frequency=0.721788
|n_genomes=52
|n_genomes_annotated=0
|n_haplomes=90
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|genetests_testable=Y
|nblosum100=0
|autoscore=2
|n_web_uneval=1
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | Illumina Human 1M}}