Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs122454122
rs122454122
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C1802395
Disease:
Congenital muscular hypertrophy-cerebral syndrome
G 0.800 CausalMutation CLINVAR
dbSNP: rs387906702
rs387906702
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C1802395
Disease:
Congenital muscular hypertrophy-cerebral syndrome
G 0.800 CausalMutation CLINVAR
dbSNP: rs387906702
rs387906702
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C1802395
Disease:
Congenital muscular hypertrophy-cerebral syndrome
G 0.800 GeneticVariation CLINVAR
dbSNP: rs587784403
rs587784403
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C1802395
Disease:
Congenital muscular hypertrophy-cerebral syndrome
T 0.800 CausalMutation CLINVAR
dbSNP: rs587784408
rs587784408
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C1802395
Disease:
Congenital muscular hypertrophy-cerebral syndrome
T 0.800 GeneticVariation CLINVAR
dbSNP: rs587784409
rs587784409
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C1802395
Disease:
Congenital muscular hypertrophy-cerebral syndrome
A 0.800 CausalMutation CLINVAR
dbSNP: rs587784416
rs587784416
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C1802395
Disease:
Congenital muscular hypertrophy-cerebral syndrome
T 0.800 GeneticVariation CLINVAR
dbSNP: rs587784418
rs587784418
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C1802395
Disease:
Congenital muscular hypertrophy-cerebral syndrome
C 0.800 GeneticVariation CLINVAR
dbSNP: rs587784418
rs587784418
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C1802395
Disease:
Congenital muscular hypertrophy-cerebral syndrome
C 0.800 CausalMutation CLINVAR
dbSNP: rs587784420
rs587784420
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C1802395
Disease:
Congenital muscular hypertrophy-cerebral syndrome
T 0.800 GeneticVariation CLINVAR
dbSNP: rs797045993
rs797045993
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C1802395
Disease:
Congenital muscular hypertrophy-cerebral syndrome
T 0.800 CausalMutation CLINVAR
dbSNP: rs1057518670
rs1057518670
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C1802395
Disease:
Congenital muscular hypertrophy-cerebral syndrome
C 0.700 CausalMutation CLINVAR
dbSNP: rs1057519398
rs1057519398
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C1802395
Disease:
Congenital muscular hypertrophy-cerebral syndrome
CG 0.700 CausalMutation CLINVAR
dbSNP: rs1057519398
rs1057519398
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C1843367
Disease:
Poor school performance
CG 0.700 CausalMutation CLINVAR
dbSNP: rs1057519499
rs1057519499
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C1802395
Disease:
Congenital muscular hypertrophy-cerebral syndrome
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1556885815
rs1556885815
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C1802395
Disease:
Congenital muscular hypertrophy-cerebral syndrome
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1556886124
rs1556886124
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C1802395
Disease:
Congenital muscular hypertrophy-cerebral syndrome
A 0.700 CausalMutation CLINVAR
dbSNP: rs1556891104
rs1556891104
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C1802395
Disease:
Congenital muscular hypertrophy-cerebral syndrome
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1556892359
rs1556892359
Entrez Id: 8243;158787
Gene Symbol: SMC1A;RIBC1
SMC1A;RIBC1
CUI: C1802395
Disease:
Congenital muscular hypertrophy-cerebral syndrome
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1569351341
rs1569351341
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C1802395
Disease:
Congenital muscular hypertrophy-cerebral syndrome
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1569351534
rs1569351534
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C1802395
Disease:
Congenital muscular hypertrophy-cerebral syndrome
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1569351907
rs1569351907
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C1802395
Disease:
Congenital muscular hypertrophy-cerebral syndrome
A 0.700 CausalMutation CLINVAR
dbSNP: rs1569356968
rs1569356968
Entrez Id: 8243;102465516
Gene Symbol: SMC1A;MIR6857
SMC1A;MIR6857
CUI: C1802395
Disease:
Congenital muscular hypertrophy-cerebral syndrome
A 0.700 CausalMutation CLINVAR
dbSNP: rs1569356968
rs1569356968
Entrez Id: 8243;102465516
Gene Symbol: SMC1A;MIR6857
SMC1A;MIR6857
CUI: C0557874
Disease:
Global developmental delay
A 0.700 CausalMutation CLINVAR
dbSNP: rs1569356968
rs1569356968
Entrez Id: 8243;102465516
Gene Symbol: SMC1A;MIR6857
SMC1A;MIR6857
CUI: C0026106
Disease:
Mild Mental Retardation
A 0.700 CausalMutation CLINVAR