Gene: HEXA ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121907957
rs121907957
HEXA
T 0.800 GeneticVariation CLINVAR Three novel mutations in Iranian patients with Tay-Sachs disease. 24518553

2014
dbSNP: rs387906309
rs387906309
HEXA
GGATA 0.710 CausalMutation CLINVAR Three novel mutations in Iranian patients with Tay-Sachs disease. 24518553

2014
dbSNP: rs121907963
rs121907963
HEXA
A 0.700 CausalMutation CLINVAR Three novel mutations in Iranian patients with Tay-Sachs disease. 24518553

2014
dbSNP: rs121907963
rs121907963
HEXA
A 0.700 GeneticVariation CLINVAR Three novel mutations in Iranian patients with Tay-Sachs disease. 24518553

2014
dbSNP: rs200926928
rs200926928
HEXA
C 0.700 CausalMutation CLINVAR Three novel mutations in Iranian patients with Tay-Sachs disease. 24518553

2014
dbSNP: rs200926928
rs200926928
HEXA
C 0.700 GeneticVariation CLINVAR Three novel mutations in Iranian patients with Tay-Sachs disease. 24518553

2014
dbSNP: rs786204585
rs786204585
HEXA
A 0.700 GeneticVariation CLINVAR Three novel mutations in Iranian patients with Tay-Sachs disease. 24518553

2014
dbSNP: rs786204585
rs786204585
HEXA
A 0.700 CausalMutation CLINVAR Three novel mutations in Iranian patients with Tay-Sachs disease. 24518553

2014
dbSNP: rs797044432
rs797044432
HEXA
T 0.700 CausalMutation CLINVAR Three novel mutations in Iranian patients with Tay-Sachs disease. 24518553

2014
dbSNP: rs121907956
rs121907956
HEXA
T 0.800 CausalMutation CLINVAR Next-generation DNA sequencing of HEXA: a step in the right direction for carrier screening. 24498621

2013
dbSNP: rs387906309
rs387906309
HEXA
GGATA 0.710 CausalMutation CLINVAR Validation for clinical use of, and initial clinical experience with, a novel approach to population-based carrier screening using high-throughput, next-generation DNA sequencing. 24374108

2014
dbSNP: rs772180415
rs772180415
HEXA
A 0.800 GeneticVariation CLINVAR Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facility. 23852624

2014
dbSNP: rs387906309
rs387906309
HEXA
GGATA 0.710 CausalMutation CLINVAR Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facility. 23852624

2014
dbSNP: rs1057519462
rs1057519462
HEXA
A 0.700 GeneticVariation CLINVAR Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facility. 23852624

2014
dbSNP: rs1057519463
rs1057519463
HEXA
G 0.700 CausalMutation CLINVAR Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facility. 23852624

2014
dbSNP: rs1057519464
rs1057519464
HEXA
G 0.700 CausalMutation CLINVAR Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facility. 23852624

2014
dbSNP: rs1057519468
rs1057519468
HEXA
T 0.700 CausalMutation CLINVAR Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facility. 23852624

2014
dbSNP: rs762374961
rs762374961
HEXA
T 0.700 CausalMutation CLINVAR Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facility. 23852624

2014
dbSNP: rs762374961
rs762374961
HEXA
T 0.700 GeneticVariation CLINVAR Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facility. 23852624

2014
dbSNP: rs200926928
rs200926928
HEXA
C 0.700 GeneticVariation CLINVAR Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units. 23035047

2012
dbSNP: rs200926928
rs200926928
HEXA
C 0.700 CausalMutation CLINVAR Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units. 23035047

2012
dbSNP: rs387906309
rs387906309
HEXA
GGATA 0.710 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 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: rs76173977
rs76173977
HEXA
T 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: rs28941770
rs28941770
HEXA
T 0.820 CausalMutation CLINVAR GM2 gangliosidoses in Spain: analysis of the HEXA and HEXB genes in 34 Tay-Sachs and 14 Sandhoff patients. 22789865

2012