Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1034395178
rs1034395178
LZTR1
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		A 0.700 CausalMutation CLINVAR Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants. 29469822

2018
dbSNP: rs121913348
rs121913348
BRAF
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		T 0.700 GeneticVariation CLINVAR Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome. 18413255

2008
dbSNP: rs12720458
rs12720458
KCNQ1
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs138119149
rs138119149
AARS2 ; TMEM151B
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs141498002
rs141498002
PMM2
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1554333853
rs1554333853
CDK13
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		G 0.700 GeneticVariation CLINVAR Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. 28807008

2017
dbSNP: rs1555564126
rs1555564126
EFTUD2
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1557781252
rs1557781252
GATAD2B
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1567690011
rs1567690011
PRMT7
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1567721991
rs1567721991
PRMT7
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		TGCTCTCCG 0.700 CausalMutation CLINVAR

dbSNP: rs180177135
rs180177135
PALB2
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		G 0.700 CausalMutation CLINVAR

dbSNP: rs397517154
rs397517154
SOS1
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		T 0.700 CausalMutation CLINVAR

dbSNP: rs483352822
rs483352822
RIT1
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		G 0.700 CausalMutation CLINVAR

dbSNP: rs587777589
rs587777589
AARS2
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		GC 0.700 CausalMutation CLINVAR

dbSNP: rs587783446
rs587783446
CHD7
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		T 0.700 CausalMutation CLINVAR

dbSNP: rs587783772
rs587783772
MTM1
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		T 0.700 CausalMutation CLINVAR

dbSNP: rs672601334
rs672601334
RIT1
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		C 0.700 CausalMutation CLINVAR

dbSNP: rs759125480
rs759125480
CEP120
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs763028380
rs763028380
ABCC8
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs770374710
rs770374710
MAGEL2
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		TG 0.700 CausalMutation CLINVAR

dbSNP: rs771237928
rs771237928
NOTCH2
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		T 0.700 CausalMutation CLINVAR

dbSNP: rs775011495
rs775011495
GLDN
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs779027563
rs779027563
CNTNAP1
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		C 0.700 GeneticVariation CLINVAR Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. 27668699

2017
dbSNP: rs794727931
rs794727931
ALG8
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		C 0.700 CausalMutation CLINVAR

dbSNP: rs797045412
rs797045412
BICD2
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		A 0.700 GeneticVariation CLINVAR