Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1569356968
rs1569356968
Entrez Id: 8243;102465516
Gene Symbol: SMC1A;MIR6857
SMC1A;MIR6857
CUI: C1853487
Disease:
Thick eyebrow
A 0.700 CausalMutation CLINVAR
dbSNP: rs1569356968
rs1569356968
Entrez Id: 8243;102465516
Gene Symbol: SMC1A;MIR6857
SMC1A;MIR6857
CUI: C0036572
Disease:
Seizures
A 0.700 CausalMutation CLINVAR
dbSNP: rs387906702
rs387906702
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C3552501
Disease:
Talus valgus
G 0.700 GeneticVariation CLINVAR
dbSNP: rs387906702
rs387906702
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C1737329
Disease:
Dysmorphism
G 0.700 GeneticVariation CLINVAR
dbSNP: rs387906702
rs387906702
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C0026826
Disease:
Muscle Hypertonia
G 0.700 GeneticVariation CLINVAR
dbSNP: rs387906702
rs387906702
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C0019572
Disease:
Hirsutism
G 0.700 GeneticVariation CLINVAR
dbSNP: rs387906702
rs387906702
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C4551563
Disease:
Microcephaly (physical finding)
G 0.700 GeneticVariation CLINVAR
dbSNP: rs387906702
rs387906702
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C1854919
Disease:
Severe psychomotor retardation
G 0.700 GeneticVariation CLINVAR
dbSNP: rs387906702
rs387906702
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C0018536
Disease:
Hallux Valgus
G 0.700 GeneticVariation CLINVAR
dbSNP: rs387906702
rs387906702
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C3887873
Disease:
Hearing Loss
G 0.700 GeneticVariation CLINVAR
dbSNP: rs387906702
rs387906702
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C4317146
Disease:
Acid reflux
G 0.700 GeneticVariation CLINVAR
dbSNP: rs387906702
rs387906702
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C1843367
Disease:
Poor school performance
G 0.700 GeneticVariation CLINVAR
dbSNP: rs387906702
rs387906702
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C1834405
Disease:
Nail dysplasia
G 0.700 GeneticVariation CLINVAR
dbSNP: rs387906702
rs387906702
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C0431447
Disease:
Synophrys
G 0.700 GeneticVariation CLINVAR
dbSNP: rs587784404
rs587784404
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C1802395
Disease:
Congenital muscular hypertrophy-cerebral syndrome
T 0.700 GeneticVariation CLINVAR
dbSNP: rs587784405
rs587784405
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C1802395
Disease:
Congenital muscular hypertrophy-cerebral syndrome
C 0.700 GeneticVariation CLINVAR
dbSNP: rs587784406
rs587784406
Entrez Id: 8243;102465516
Gene Symbol: SMC1A;MIR6857
SMC1A;MIR6857
CUI: C1802395
Disease:
Congenital muscular hypertrophy-cerebral syndrome
G 0.700 GeneticVariation CLINVAR
dbSNP: rs587784407
rs587784407
Entrez Id: 8243;102465516
Gene Symbol: SMC1A;MIR6857
SMC1A;MIR6857
CUI: C1802395
Disease:
Congenital muscular hypertrophy-cerebral syndrome
T 0.700 GeneticVariation CLINVAR
dbSNP: rs587784410
rs587784410
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C1802395
Disease:
Congenital muscular hypertrophy-cerebral syndrome
T 0.700 GeneticVariation CLINVAR
dbSNP: rs587784412
rs587784412
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C1802395
Disease:
Congenital muscular hypertrophy-cerebral syndrome
A 0.700 CausalMutation CLINVAR
dbSNP: rs587784415
rs587784415
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C1802395
Disease:
Congenital muscular hypertrophy-cerebral syndrome
A 0.700 GeneticVariation CLINVAR
dbSNP: rs587784419
rs587784419
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C1802395
Disease:
Congenital muscular hypertrophy-cerebral syndrome
G 0.700 GeneticVariation CLINVAR
dbSNP: rs587784421
rs587784421
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C1802395
Disease:
Congenital muscular hypertrophy-cerebral syndrome
A 0.700 CausalMutation CLINVAR
dbSNP: rs587784422
rs587784422
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C1802395
Disease:
Congenital muscular hypertrophy-cerebral syndrome
A 0.700 CausalMutation CLINVAR
dbSNP: rs587784422
rs587784422
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C1802395
Disease:
Congenital muscular hypertrophy-cerebral syndrome
A 0.700 GeneticVariation CLINVAR