Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555630216
rs1555630216
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C4021742
Disease:
Abnormality of the humerus
T 0.700 CausalMutation CLINVAR
dbSNP: rs1555648288
rs1555648288
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C4021742
Disease:
Abnormality of the humerus
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1555630216
rs1555630216
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C0234146
Disease:
Absent reflex
T 0.700 CausalMutation CLINVAR
dbSNP: rs1555648288
rs1555648288
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C0234146
Disease:
Absent reflex
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1568069621
rs1568069621
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C0003886
Disease:
Arthrogryposis
A 0.700 CausalMutation CLINVAR The genomic and clinical landscape of fetal akinesia. 31680123 2020
dbSNP: rs1568069621
rs1568069621
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C0003886
Disease:
Arthrogryposis
A 0.700 CausalMutation CLINVAR Recessive PIEZO2 stop mutation causes distal arthrogryposis with distal muscle weakness, scoliosis and proprioception defects. 27974811 2017
dbSNP: rs587777450
rs587777450
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C0003886
Disease:
Arthrogryposis
T 0.700 CausalMutation CLINVAR The genomic and clinical landscape of fetal akinesia. 31680123 2020
dbSNP: rs587777450
rs587777450
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C0220666
Disease:
ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA
T 0.800 CausalMutation CLINVAR Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. 24726473 2014
dbSNP: rs587777450
rs587777450
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C0220666
Disease:
ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA
0.800 GeneticVariation UNIPROT Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. 24726473 2014
dbSNP: rs587777452
rs587777452
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C0220666
Disease:
ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA
T 0.700 CausalMutation CLINVAR
dbSNP: rs724159993
rs724159993
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C0220666
Disease:
ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA
T 0.700 CausalMutation CLINVAR Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. 24726473 2014
dbSNP: rs886039823
rs886039823
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C4310692
Disease:
ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH
0.800 GeneticVariation UNIPROT
dbSNP: rs886039823
rs886039823
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C4310692
Disease:
ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH
G 0.800 CausalMutation CLINVAR
dbSNP: rs1057519425
rs1057519425
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C4310692
Disease:
ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH
C 0.700 CausalMutation CLINVAR
dbSNP: rs1057519426
rs1057519426
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C4310692
Disease:
ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH
TTCG 0.700 CausalMutation CLINVAR
dbSNP: rs1057519626
rs1057519626
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C4310692
Disease:
ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH
A 0.700 CausalMutation CLINVAR
dbSNP: rs1555630216
rs1555630216
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C4310692
Disease:
ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH
T 0.700 CausalMutation CLINVAR
dbSNP: rs1555648288
rs1555648288
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C4310692
Disease:
ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1568069621
rs1568069621
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C4310692
Disease:
ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH
A 0.700 CausalMutation CLINVAR
dbSNP: rs757200280
rs757200280
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C4310692
Disease:
ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH
A 0.700 GeneticVariation CLINVAR
dbSNP: rs886039821
rs886039821
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C4310692
Disease:
ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH
A 0.700 CausalMutation CLINVAR
dbSNP: rs886039822
rs886039822
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C4310692
Disease:
ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH
A 0.700 CausalMutation CLINVAR
dbSNP: rs886039824
rs886039824
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C4310692
Disease:
ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH
C 0.700 CausalMutation CLINVAR
dbSNP: rs1555630216
rs1555630216
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C0234162
Disease:
Cerebellar Dysmetria
T 0.700 CausalMutation CLINVAR
dbSNP: rs1555648288
rs1555648288
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C0234162
Disease:
Cerebellar Dysmetria
T 0.700 GeneticVariation CLINVAR