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rs153478

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs153478(A;G)
Make rs153478(G;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position151259878
GeneGM2A
is asnp
is mentioned by
dbSNPrs153478
ebirs153478
HLIrs153478
Exacrs153478
Varsomers153478
Maprs153478
PheGenIrs153478
hapmaprs153478
1000 genomesrs153478
hgdprs153478
ensemblrs153478
gopubmedrs153478
geneviewrs153478
scholarrs153478
googlers153478
pharmgkbrs153478
gwascentralrs153478
openSNPrs153478
23andMers153478
23andMe allrs153478
SNP Nexus

SNPshotrs153478
SNPdbers153478
MSV3drs153478
GWAS Ctlgrs153478
GMAF0.185
Max Magnitude0
? (A;A) (A;G) (G;G) 28
Venter snp
Source plos
Gene GM2A
allele G
frequency 0.7
sift TOLERATED
HuRef 1103654257882
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.



Neighborrs153477
Distance30


GET Evidence
GM2A-M69V
aa_change Met69Val
aa_change_short M69V
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.721788
summary



ClinVar
Risk rs153478(G;G)
Alt rs153478(G;G)
Reference rs153478(A;A)
Significance Non-pathogenic
Disease not specified
Variation info
Gene GM2A
CLNDBN not specified
Reversed 0
HGVS NC_000005.9:g.150639439A>G
CLNSRC
CLNACC RCV000153333.3,