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: rs1569356550
rs1569356550
SMC1A
1.000 0.080 X 53403566 missense variant C/T snv
CUI: C1802395
Disease: Congenital muscular hypertrophy-cerebral syndrome
Congenital muscular hypertrophy-cerebral syndrome 		0.700 1.000 1 2019 2019
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: rs1569358628
rs1569358628
SMC1A
1.000 0.080 X 53411903 splice acceptor variant T/C snv
CUI: C1802395
Disease: Congenital muscular hypertrophy-cerebral syndrome
Congenital muscular hypertrophy-cerebral syndrome 		0.700 1.000 1 2019 2019
dbSNP: rs1569359048
rs1569359048
SMC1A
1.000 0.080 X 53413099 frameshift variant C/- delins
CUI: C1802395
Disease: Congenital muscular hypertrophy-cerebral syndrome
Congenital muscular hypertrophy-cerebral syndrome 		0.700 1.000 1 2019 2019
dbSNP: rs1569359535
rs1569359535
SMC1A
1.000 0.080 X 53415151 missense variant T/A snv
CUI: C1802395
Disease: Congenital muscular hypertrophy-cerebral syndrome
Congenital muscular hypertrophy-cerebral syndrome 		0.700 1.000 1 2019 2019
dbSNP: rs1569359540
rs1569359540
SMC1A
1.000 0.080 X 53415169 missense variant C/A snv
CUI: C1802395
Disease: Congenital muscular hypertrophy-cerebral syndrome
Congenital muscular hypertrophy-cerebral syndrome 		0.700 1.000 1 2019 2019
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: rs1057518670
rs1057518670
SMC1A
1.000 0.080 X 53415163 stop gained G/C snv
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: 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: rs1057519499
rs1057519499
SMC1A
1.000 0.080 X 53382296 missense variant T/C snv
CUI: C1802395
Disease: Congenital muscular hypertrophy-cerebral syndrome
Congenital muscular hypertrophy-cerebral syndrome 		0.700 0
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: rs1556886124
rs1556886124
SMC1A
1.000 0.080 X 53383124 stop gained G/A snv
CUI: C1802395
Disease: Congenital muscular hypertrophy-cerebral syndrome
Congenital muscular hypertrophy-cerebral syndrome 		0.700 0
dbSNP: rs1556891104
rs1556891104
SMC1A
1.000 0.080 X 53415155 missense variant T/C snv
CUI: C1802395
Disease: Congenital muscular hypertrophy-cerebral syndrome
Congenital muscular hypertrophy-cerebral syndrome 		0.700 0
dbSNP: rs1556892359
rs1556892359
SMC1A ; RIBC1
1.000 0.080 X 53422506 missense variant C/T snv
CUI: C1802395
Disease: Congenital muscular hypertrophy-cerebral syndrome
Congenital muscular hypertrophy-cerebral syndrome 		0.700 0
dbSNP: rs1569351341
rs1569351341
SMC1A
1.000 0.080 X 53380142 inframe deletion GAGGTCGAAGGT/- delins
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: rs1569351907
rs1569351907
SMC1A
1.000 0.080 X 53382640 stop gained G/A snv
CUI: C1802395
Disease: Congenital muscular hypertrophy-cerebral syndrome
Congenital muscular hypertrophy-cerebral syndrome 		0.700 0
dbSNP: rs1569356968
rs1569356968
SMC1A ; MIR6857
0.882 0.200 X 53405268 stop gained C/A snv
CUI: C1853487
Disease: Thick eyebrow
Thick eyebrow 		0.700 0
dbSNP: rs1569356968
rs1569356968
SMC1A ; MIR6857
0.882 0.200 X 53405268 stop gained C/A snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1569356968
rs1569356968
SMC1A ; MIR6857
0.882 0.200 X 53405268 stop gained C/A snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1569356968
rs1569356968
SMC1A ; MIR6857
0.882 0.200 X 53405268 stop gained C/A snv
CUI: C1802395
Disease: Congenital muscular hypertrophy-cerebral syndrome
Congenital muscular hypertrophy-cerebral syndrome 		0.700 0
dbSNP: rs1569356968
rs1569356968
SMC1A ; MIR6857
0.882 0.200 X 53405268 stop gained C/A snv
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		0.700 0
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