Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: rs11080466
rs11080466
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C0007131
Disease:
Non-Small Cell Lung Carcinoma
C 0.800 GeneticVariation GWASCAT The 18p11.22 locus is associated with never smoker non-small cell lung cancer susceptibility in Korean populations. 21866343 2012
dbSNP: rs11080466
rs11080466
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C0007131
Disease:
Non-Small Cell Lung Carcinoma
C 0.800 GeneticVariation GWASDB The 18p11.22 locus is associated with never smoker non-small cell lung cancer susceptibility in Korean populations. 21866343 2012
dbSNP: rs11665020
rs11665020
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C0428883
Disease:
Diastolic blood pressure
C 0.700 GeneticVariation GWASCAT Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits. 30224653 2018
dbSNP: rs12455924
rs12455924
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C0202236
Disease:
Triglycerides measurement
T 0.700 GeneticVariation GWASCAT Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans. 23400010 2014
dbSNP: rs1555621138
rs1555621138
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C1862472
Disease:
Oculomelic amyoplasia
A 0.700 CausalMutation CLINVAR Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. 24726473 2014
dbSNP: rs1555621138
rs1555621138
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C0265213
Disease:
Distal arthrogryposis syndrome
A 0.700 CausalMutation CLINVAR
dbSNP: rs1555630216
rs1555630216
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C0026034
Disease:
Microstomia
T 0.700 CausalMutation CLINVAR
dbSNP: rs1555630216
rs1555630216
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C0476403
Disease:
Electromyogram abnormal
T 0.700 CausalMutation CLINVAR
dbSNP: rs1555630216
rs1555630216
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C0575803
Disease:
Radial deviation of hand
T 0.700 CausalMutation CLINVAR
dbSNP: rs1555630216
rs1555630216
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C4021251
Disease:
Dysplasia of the femoral head
T 0.700 CausalMutation CLINVAR
dbSNP: rs1555630216
rs1555630216
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C1853743
Disease:
Muscular hypotonia of the trunk
T 0.700 CausalMutation CLINVAR
dbSNP: rs1555630216
rs1555630216
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C1837658
Disease:
Gross motor development delay
T 0.700 CausalMutation CLINVAR
dbSNP: rs1555630216
rs1555630216
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C0040433
Disease:
Tooth Crowding
T 0.700 CausalMutation CLINVAR
dbSNP: rs1555630216
rs1555630216
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C4021742
Disease:
Abnormality of the humerus
T 0.700 CausalMutation CLINVAR
dbSNP: rs1555630216
rs1555630216
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C1851313
Disease:
Limited shoulder movement
T 0.700 CausalMutation CLINVAR
dbSNP: rs1555630216
rs1555630216
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C3150077
Disease:
Mild short stature
T 0.700 CausalMutation CLINVAR
dbSNP: rs1555630216
rs1555630216
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C0038018
Disease:
Spondylolysis
T 0.700 CausalMutation CLINVAR
dbSNP: rs1555630216
rs1555630216
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C4023681
Disease:
Delayed fine motor development
T 0.700 CausalMutation CLINVAR
dbSNP: rs1555630216
rs1555630216
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C1851542
Disease:
Limited hip movement
T 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: rs1555630216
rs1555630216
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C0575081
Disease:
Gait abnormality
T 0.700 CausalMutation CLINVAR
dbSNP: rs1555630216
rs1555630216
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C0240914
Disease:
Romberg's sign positive
T 0.700 CausalMutation CLINVAR