rs387906702, SMC1A

N. diseases: 16
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Congenital muscular hypertrophy-cerebral syndrome
CUI: C1802395
Disease: Congenital muscular hypertrophy-cerebral syndrome
50 0.807 0.200 X 53403635 missense variant A/G snv 0.800 1.000 8 2006 2013
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 0.807 0.200 X 53403635 missense variant A/G snv 0.700 1.000 16 1995 2017
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
247 0.807 0.200 X 53403635 missense variant A/G snv 0.700 1.000 16 1995 2017
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.807 0.200 X 53403635 missense variant A/G snv 0.700 1.000 16 1995 2017
Acid reflux
CUI: C4317146
Disease: Acid reflux
58 0.807 0.200 X 53403635 missense variant A/G snv 0.700 0
Dysmorphism
CUI: C1737329
Disease: Dysmorphism
16 0.807 0.200 X 53403635 missense variant A/G snv 0.700 0
Hallux Valgus
CUI: C0018536
Disease: Hallux Valgus
6 0.807 0.200 X 53403635 missense variant A/G snv 0.700 0
Hearing Loss
CUI: C3887873
Disease: Hearing Loss
61 0.807 0.200 X 53403635 missense variant A/G snv 0.700 0
Hirsutism
CUI: C0019572
Disease: Hirsutism
17 0.807 0.200 X 53403635 missense variant A/G snv 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.807 0.200 X 53403635 missense variant A/G snv 0.700 0
Muscle Hypertonia
CUI: C0026826
Disease: Muscle Hypertonia
21 0.807 0.200 X 53403635 missense variant A/G snv 0.700 0
Nail dysplasia
CUI: C1834405
Disease: Nail dysplasia
2 0.807 0.200 X 53403635 missense variant A/G snv 0.700 0
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.807 0.200 X 53403635 missense variant A/G snv 0.700 0
Severe psychomotor retardation
CUI: C1854919
Disease: Severe psychomotor retardation
3 0.807 0.200 X 53403635 missense variant A/G snv 0.700 0
Synophrys
CUI: C0431447
Disease: Synophrys
23 0.807 0.200 X 53403635 missense variant A/G snv 0.700 0
Talus valgus
CUI: C3552501
Disease: Talus valgus
1 0.807 0.200 X 53403635 missense variant A/G snv 0.700 0