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: rs1556889640
rs1556889640
SMC1A ; MIR6857
X 53405893 frameshift variant C/- delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 16 1995 2017
dbSNP: rs1556886034
rs1556886034
SMC1A
0.925 0.080 X 53382594 missense variant C/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 16 1995 2017
dbSNP: rs1556886034
rs1556886034
SMC1A
0.925 0.080 X 53382594 missense variant C/T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 16 1995 2017
dbSNP: rs1556886034
rs1556886034
SMC1A
0.925 0.080 X 53382594 missense variant C/T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 16 1995 2017
dbSNP: rs122454123
rs122454123
SMC1A
1.000 0.080 X 53409120 missense variant C/T snv
CUI: C1802395
Disease: Congenital muscular hypertrophy-cerebral syndrome
Congenital muscular hypertrophy-cerebral syndrome 		0.800 1.000 9 2006 2019
dbSNP: rs122454122
rs122454122
SMC1A
1.000 0.080 X 53409129 missense variant T/G snv
CUI: C1802395
Disease: Congenital muscular hypertrophy-cerebral syndrome
Congenital muscular hypertrophy-cerebral syndrome 		0.800 1.000 8 2006 2013
dbSNP: rs1556890815
rs1556890815
SMC1A
1.000 0.080 X 53413260 missense variant C/T snv
CUI: C1802395
Disease: Congenital muscular hypertrophy-cerebral syndrome
Congenital muscular hypertrophy-cerebral syndrome 		0.800 1.000 8 2006 2013
dbSNP: rs587784403
rs587784403
SMC1A
1.000 0.080 X 53411822 missense variant C/T snv
CUI: C1802395
Disease: Congenital muscular hypertrophy-cerebral syndrome
Congenital muscular hypertrophy-cerebral syndrome 		0.800 1.000 8 2006 2013
dbSNP: rs587784408
rs587784408
SMC1A
1.000 0.080 X 53405130 missense variant C/T snv
CUI: C1802395
Disease: Congenital muscular hypertrophy-cerebral syndrome
Congenital muscular hypertrophy-cerebral syndrome 		0.800 1.000 8 2006 2013
dbSNP: rs587784409
rs587784409
SMC1A
1.000 0.080 X 53405077 missense variant G/A snv
CUI: C1802395
Disease: Congenital muscular hypertrophy-cerebral syndrome
Congenital muscular hypertrophy-cerebral syndrome 		0.800 1.000 8 2006 2013
dbSNP: rs587784416
rs587784416
SMC1A
1.000 0.080 X 53382645 missense variant C/T snv
CUI: C1802395
Disease: Congenital muscular hypertrophy-cerebral syndrome
Congenital muscular hypertrophy-cerebral syndrome 		0.800 1.000 8 2006 2013
dbSNP: rs587784418
rs587784418
SMC1A
1.000 0.080 X 53382537 missense variant T/C snv
CUI: C1802395
Disease: Congenital muscular hypertrophy-cerebral syndrome
Congenital muscular hypertrophy-cerebral syndrome 		0.800 1.000 8 2006 2013
dbSNP: rs587784420
rs587784420
SMC1A
1.000 0.080 X 53413426 missense variant C/T snv
CUI: C1802395
Disease: Congenital muscular hypertrophy-cerebral syndrome
Congenital muscular hypertrophy-cerebral syndrome 		0.800 1.000 8 2006 2013
dbSNP: rs782176647
rs782176647
SMC1A
1.000 0.080 X 53405076 missense variant C/A;T snv 1.9E-05
CUI: C1802395
Disease: Congenital muscular hypertrophy-cerebral syndrome
Congenital muscular hypertrophy-cerebral syndrome 		0.700 1.000 8 2006 2013
dbSNP: rs797045993
rs797045993
SMC1A
1.000 0.080 X 53403617 missense variant C/T snv
CUI: C1802395
Disease: Congenital muscular hypertrophy-cerebral syndrome
Congenital muscular hypertrophy-cerebral syndrome 		0.800 1.000 8 2006 2013
dbSNP: rs587784412
rs587784412
SMC1A
1.000 0.080 X 53403618 missense variant G/A snv
CUI: C1802395
Disease: Congenital muscular hypertrophy-cerebral syndrome
Congenital muscular hypertrophy-cerebral syndrome 		0.700 1.000 2 2007 2014
dbSNP: rs797045069
rs797045069
SMC1A
1.000 0.080 X 53399604 frameshift variant T/- del
CUI: C1802395
Disease: Congenital muscular hypertrophy-cerebral syndrome
Congenital muscular hypertrophy-cerebral syndrome 		0.700 1.000 2 2016 2019
dbSNP: rs863225458
rs863225458
SMC1A
1.000 0.080 X 53396233 frameshift variant GACT/- delins
CUI: C1802395
Disease: Congenital muscular hypertrophy-cerebral syndrome
Congenital muscular hypertrophy-cerebral syndrome 		0.700 1.000 2 2015 2019
dbSNP: rs1057521921
rs1057521921
SMC1A
1.000 0.080 X 53382613 missense variant C/T snv
CUI: C0270972
Disease: Cornelia De Lange Syndrome
Cornelia De Lange Syndrome 		0.010 1.000 1 2015 2015
dbSNP: rs1556886034
rs1556886034
SMC1A
0.925 0.080 X 53382594 missense variant C/T snv
CUI: C1802395
Disease: Congenital muscular hypertrophy-cerebral syndrome
Congenital muscular hypertrophy-cerebral syndrome 		0.700 1.000 1 2015 2015
dbSNP: rs1556886127
rs1556886127
SMC1A
1.000 0.080 X 53383145 frameshift variant TGGCCTTCATGTTGGGGGCGGCAATAC/CTGCA delins
CUI: C1802395
Disease: Congenital muscular hypertrophy-cerebral syndrome
Congenital muscular hypertrophy-cerebral syndrome 		0.700 1.000 1 2007 2007
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