rs1057519463
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facility.
|
23852624 |
2014 |
rs1057519464
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facility.
|
23852624 |
2014 |
rs1057519465
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1057519466
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1057519467
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India.
|
22723944 |
2012 |
rs1057519468
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facility.
|
23852624 |
2014 |
rs121907966
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Six novel deleterious and three neutral mutations in the gene encoding the alpha-subunit of hexosaminidase A in non-Jewish individuals.
|
1532289 |
1992 |
rs121907972
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India.
|
22723944 |
2012 |
rs121907978
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs370266293
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs387906309
|
|
GGATA |
0.700 |
CausalMutation |
CLINVAR |
Expanding the spectrum of HEXA mutations in Indian patients with Tay-Sachs disease.
|
27896118 |
2014 |
rs387906309
|
|
GGATA |
0.700 |
CausalMutation |
CLINVAR |
Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India.
|
22723944 |
2012 |
rs387906309
|
|
GGATA |
0.700 |
CausalMutation |
CLINVAR |
Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facility.
|
23852624 |
2014 |
rs748190164
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs762374961
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facility.
|
23852624 |
2014 |
rs773446161
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Novel mutations and DNA-based screening in non-Jewish carriers of Tay-Sachs disease.
|
9150157 |
1997 |
rs786204585
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Expanding the spectrum of HEXA mutations in Indian patients with Tay-Sachs disease.
|
27896118 |
2014 |