Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs117134265
rs117134265
ROR2
CUI: C3151520
Disease: Early severe fetal akinesia sequence
Early severe fetal akinesia sequence 		T 0.700 GeneticVariation CLINVAR The genomic and clinical landscape of fetal akinesia. 31680123

2020
dbSNP: rs145631389
rs145631389
ROR2
CUI: C3151520
Disease: Early severe fetal akinesia sequence
Early severe fetal akinesia sequence 		C 0.700 GeneticVariation CLINVAR The genomic and clinical landscape of fetal akinesia. 31680123

2020
dbSNP: rs1568069621
rs1568069621
PIEZO2
CUI: C3151520
Disease: Early severe fetal akinesia sequence
Early severe fetal akinesia sequence 		A 0.700 CausalMutation CLINVAR The genomic and clinical landscape of fetal akinesia. 31680123

2020
dbSNP: rs1568069621
rs1568069621
PIEZO2
CUI: C3151520
Disease: Early severe fetal akinesia sequence
Early severe fetal akinesia sequence 		A 0.700 CausalMutation CLINVAR Recessive PIEZO2 stop mutation causes distal arthrogryposis with distal muscle weakness, scoliosis and proprioception defects. 27974811

2017
dbSNP: rs200546266
rs200546266
RYR1
CUI: C3151520
Disease: Early severe fetal akinesia sequence
Early severe fetal akinesia sequence 		T 0.700 GeneticVariation CLINVAR The genomic and clinical landscape of fetal akinesia. 31680123

2020
dbSNP: rs267607038
rs267607038
SETBP1
CUI: C3151520
Disease: Early severe fetal akinesia sequence
Early severe fetal akinesia sequence 		C 0.700 CausalMutation CLINVAR The genomic and clinical landscape of fetal akinesia. 31680123

2020
dbSNP: rs375218091
rs375218091
RAPSN
CUI: C3151520
Disease: Early severe fetal akinesia sequence
Early severe fetal akinesia sequence 		A 0.700 CausalMutation CLINVAR The genomic and clinical landscape of fetal akinesia. 31680123

2020
dbSNP: rs387907196
rs387907196
EXOSC3
CUI: C3151520
Disease: Early severe fetal akinesia sequence
Early severe fetal akinesia sequence 		G 0.700 CausalMutation CLINVAR

dbSNP: rs552094593
rs552094593
GBE1
CUI: C3151520
Disease: Early severe fetal akinesia sequence
Early severe fetal akinesia sequence 		A 0.700 GeneticVariation CLINVAR The genomic and clinical landscape of fetal akinesia. 31680123

2020
dbSNP: rs587777450
rs587777450
PIEZO2
CUI: C3151520
Disease: Early severe fetal akinesia sequence
Early severe fetal akinesia sequence 		T 0.700 CausalMutation CLINVAR The genomic and clinical landscape of fetal akinesia. 31680123

2020
dbSNP: rs587784379
rs587784379
RYR1
CUI: C3151520
Disease: Early severe fetal akinesia sequence
Early severe fetal akinesia sequence 		G 0.700 CausalMutation CLINVAR The genomic and clinical landscape of fetal akinesia. 31680123

2020
dbSNP: rs730882230
rs730882230
FBN2
CUI: C3151520
Disease: Early severe fetal akinesia sequence
Early severe fetal akinesia sequence 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs750803388
rs750803388
GLDN
CUI: C3151520
Disease: Early severe fetal akinesia sequence
Early severe fetal akinesia sequence 		A 0.700 GeneticVariation CLINVAR The genomic and clinical landscape of fetal akinesia. 31680123

2020
dbSNP: rs786205271
rs786205271
SCN5A
CUI: C3151520
Disease: Early severe fetal akinesia sequence
Early severe fetal akinesia sequence 		A 0.700 GeneticVariation CLINVAR The genomic and clinical landscape of fetal akinesia. 31680123

2020
dbSNP: rs797045412
rs797045412
BICD2
CUI: C3151520
Disease: Early severe fetal akinesia sequence
Early severe fetal akinesia sequence 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs886041709
rs886041709
ASPM
CUI: C3151520
Disease: Early severe fetal akinesia sequence
Early severe fetal akinesia sequence 		G 0.700 GeneticVariation CLINVAR The genomic and clinical landscape of fetal akinesia. 31680123

2020