Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555472406
rs1555472406
HEXA
AGGAT 0.700 CausalMutation CLINVAR Prader-Willi syndrome and Tay-Sachs disease in association with mixed maternal uniparental isodisomy and heterodisomy 15 in a girl who also had isochromosome Xq. 25287655

2015
dbSNP: rs1555472406
rs1555472406
HEXA
AGGAT 0.700 CausalMutation CLINVAR An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals. 22975760

2013
dbSNP: rs1555472406
rs1555472406
HEXA
AGGAT 0.700 CausalMutation CLINVAR Carrier testing for severe childhood recessive diseases by next-generation sequencing. 21228398

2011