Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057519398
rs1057519398
SMC1A
1.000 0.080 X 53409218 frameshift variant -/G ins
CUI: C1802395
Disease: Congenital muscular hypertrophy-cerebral syndrome
Congenital muscular hypertrophy-cerebral syndrome 		0.700 0
dbSNP: rs1057519398
rs1057519398
SMC1A
1.000 0.080 X 53409218 frameshift variant -/G ins
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs863225459
rs863225459
SMC1A
1.000 0.080 X 53380685 frameshift variant -/GGCC delins
CUI: C1802395
Disease: Congenital muscular hypertrophy-cerebral syndrome
Congenital muscular hypertrophy-cerebral syndrome 		0.700 1.000 1 2015 2015
dbSNP: rs1569356555
rs1569356555
SMC1A
1.000 0.080 X 53403591 frameshift variant -/T delins
CUI: C1802395
Disease: Congenital muscular hypertrophy-cerebral syndrome
Congenital muscular hypertrophy-cerebral syndrome 		0.700 1.000 1 2019 2019
dbSNP: rs1556885815
rs1556885815
SMC1A
1.000 0.080 X 53381057 missense variant A/C snv
CUI: C1802395
Disease: Congenital muscular hypertrophy-cerebral syndrome
Congenital muscular hypertrophy-cerebral syndrome 		0.700 0
dbSNP: rs387906702
rs387906702
SMC1A
0.807 0.200 X 53403635 missense variant A/G snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.700 1.000 16 1995 2017
dbSNP: rs387906702
rs387906702
SMC1A
0.807 0.200 X 53403635 missense variant A/G snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 16 1995 2017
dbSNP: rs387906702
rs387906702
SMC1A
0.807 0.200 X 53403635 missense variant A/G snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 16 1995 2017
dbSNP: rs387906702
rs387906702
SMC1A
0.807 0.200 X 53403635 missense variant A/G snv
CUI: C1802395
Disease: Congenital muscular hypertrophy-cerebral syndrome
Congenital muscular hypertrophy-cerebral syndrome 		0.800 1.000 8 2006 2013
dbSNP: rs387906702
rs387906702
SMC1A
0.807 0.200 X 53403635 missense variant A/G snv
CUI: C1737329
Disease: Dysmorphism
Dysmorphism 		0.700 0
dbSNP: rs387906702
rs387906702
SMC1A
0.807 0.200 X 53403635 missense variant A/G snv
CUI: C3887873
Disease: Hearing Loss
Hearing Loss 		0.700 0
dbSNP: rs387906702
rs387906702
SMC1A
0.807 0.200 X 53403635 missense variant A/G snv
CUI: C0018536
Disease: Hallux Valgus
Hallux Valgus 		0.700 0
dbSNP: rs387906702
rs387906702
SMC1A
0.807 0.200 X 53403635 missense variant A/G snv
CUI: C0019572
Disease: Hirsutism
Hirsutism 		0.700 0
dbSNP: rs387906702
rs387906702
SMC1A
0.807 0.200 X 53403635 missense variant A/G snv
CUI: C3552501
Disease: Talus valgus
Talus valgus 		0.700 0
dbSNP: rs387906702
rs387906702
SMC1A
0.807 0.200 X 53403635 missense variant A/G snv
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs387906702
rs387906702
SMC1A
0.807 0.200 X 53403635 missense variant A/G snv
CUI: C0431447
Disease: Synophrys
Synophrys 		0.700 0
dbSNP: rs387906702
rs387906702
SMC1A
0.807 0.200 X 53403635 missense variant A/G snv
CUI: C1834405
Disease: Nail dysplasia
Nail dysplasia 		0.700 0
dbSNP: rs387906702
rs387906702
SMC1A
0.807 0.200 X 53403635 missense variant A/G snv
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia 		0.700 0
dbSNP: rs387906702
rs387906702
SMC1A
0.807 0.200 X 53403635 missense variant A/G snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs387906702
rs387906702
SMC1A
0.807 0.200 X 53403635 missense variant A/G snv
CUI: C1854919
Disease: Severe psychomotor retardation
Severe psychomotor retardation 		0.700 0
dbSNP: rs387906702
rs387906702
SMC1A
0.807 0.200 X 53403635 missense variant A/G snv
CUI: C4317146
Disease: Acid reflux
Acid reflux 		0.700 0
dbSNP: rs587784406
rs587784406
SMC1A ; MIR6857
1.000 0.080 X 53405650 missense variant A/G snv
CUI: C1802395
Disease: Congenital muscular hypertrophy-cerebral syndrome
Congenital muscular hypertrophy-cerebral syndrome 		0.700 0
dbSNP: rs587784419
rs587784419
SMC1A
1.000 0.080 X 53380681 missense variant A/G snv
CUI: C1802395
Disease: Congenital muscular hypertrophy-cerebral syndrome
Congenital muscular hypertrophy-cerebral syndrome 		0.700 0
dbSNP: rs1569351534
rs1569351534
SMC1A
1.000 0.080 X 53381064 missense variant A/T snv
CUI: C1802395
Disease: Congenital muscular hypertrophy-cerebral syndrome
Congenital muscular hypertrophy-cerebral syndrome 		0.700 0
dbSNP: rs587784410
rs587784410
SMC1A
1.000 0.080 X 53403659 missense variant A/T snv
CUI: C1802395
Disease: Congenital muscular hypertrophy-cerebral syndrome
Congenital muscular hypertrophy-cerebral syndrome 		0.700 0