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

2020
dbSNP: rs145631389
rs145631389
ROR2
C 0.700 GeneticVariation CLINVAR The genomic and clinical landscape of fetal akinesia. 31680123

2020
dbSNP: rs1558005340
rs1558005340
ATP1A2
G 0.700 GeneticVariation CLINVAR Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations. 30690204

2020
dbSNP: rs1558008455
rs1558008455
ATP1A2
A 0.700 GeneticVariation CLINVAR Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations. 30690204

2020
dbSNP: rs1568069621
rs1568069621
PIEZO2
A 0.700 CausalMutation CLINVAR The genomic and clinical landscape of fetal akinesia. 31680123

2020
dbSNP: rs200546266
rs200546266
RYR1
T 0.700 GeneticVariation CLINVAR The genomic and clinical landscape of fetal akinesia. 31680123

2020
dbSNP: rs267607038
rs267607038
SETBP1
C 0.700 CausalMutation CLINVAR The genomic and clinical landscape of fetal akinesia. 31680123

2020
dbSNP: rs375218091
rs375218091
RAPSN
A 0.700 CausalMutation CLINVAR The genomic and clinical landscape of fetal akinesia. 31680123

2020
dbSNP: rs552094593
rs552094593
GBE1
A 0.700 GeneticVariation CLINVAR The genomic and clinical landscape of fetal akinesia. 31680123

2020
dbSNP: rs587777450
rs587777450
PIEZO2
T 0.700 CausalMutation CLINVAR The genomic and clinical landscape of fetal akinesia. 31680123

2020
dbSNP: rs587784379
rs587784379
RYR1
G 0.700 CausalMutation CLINVAR The genomic and clinical landscape of fetal akinesia. 31680123

2020
dbSNP: rs750803388
rs750803388
GLDN
A 0.700 GeneticVariation CLINVAR The genomic and clinical landscape of fetal akinesia. 31680123

2020
dbSNP: rs786205271
rs786205271
SCN5A
A 0.700 GeneticVariation CLINVAR The genomic and clinical landscape of fetal akinesia. 31680123

2020
dbSNP: rs886041709
rs886041709
ASPM
G 0.700 GeneticVariation CLINVAR The genomic and clinical landscape of fetal akinesia. 31680123

2020
dbSNP: rs1568069621
rs1568069621
PIEZO2
A 0.700 CausalMutation CLINVAR Recessive PIEZO2 stop mutation causes distal arthrogryposis with distal muscle weakness, scoliosis and proprioception defects. 27974811

2017
dbSNP: rs1057518887
rs1057518887
SEPSECS
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1064795760
rs1064795760
BICD2
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1555642784
rs1555642784
CNTNAP1
TC 0.700 CausalMutation CLINVAR

dbSNP: rs1563406024
rs1563406024
FZD3
GA 0.700 GeneticVariation CLINVAR

dbSNP: rs1569044747
rs1569044747
IL2RB
A 0.700 CausalMutation CLINVAR

dbSNP: rs749040743
rs749040743
RYR1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs749355583
rs749355583
ADGRG6
T 0.700 CausalMutation CLINVAR

dbSNP: rs758247804
rs758247804
RYR1 ; LOC107985290
G 0.700 CausalMutation CLINVAR

dbSNP: rs793888524
rs793888524
ADGRG6
TG 0.700 CausalMutation CLINVAR

dbSNP: rs793888525
rs793888525
ADGRG6
A 0.700 CausalMutation CLINVAR