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: rs1131691712
rs1131691712
19 13286952 frameshift variant -/A delins 4.2E-06
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.700 1.000 46 1988 2017
dbSNP: rs1555756091
rs1555756091
1.000 19 13298847 frameshift variant -/A ins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 46 1988 2017
dbSNP: rs1554777375
rs1554777375
9 127665304 frameshift variant -/A delins
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.700 1.000 27 1998 2016
dbSNP: rs1554777375
rs1554777375
9 127665304 frameshift variant -/A delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.700 1.000 27 1998 2016
dbSNP: rs1554226131
rs1554226131
1.000 6 157148899 frameshift variant -/A delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 20 1984 2017
dbSNP: rs1554226131
rs1554226131
1.000 6 157148899 frameshift variant -/A delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.700 1.000 20 1984 2017
dbSNP: rs1554588675
rs1554588675
1.000 8 60781137 frameshift variant -/A delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 20 1999 2016
dbSNP: rs1554122458
rs1554122458
6 33444450 frameshift variant -/A delins
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.700 1.000 18 2004 2017
dbSNP: rs1554122458
rs1554122458
6 33444450 frameshift variant -/A delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.700 1.000 18 2004 2017
dbSNP: rs1555985620
rs1555985620
1.000 21 37493094 frameshift variant -/A delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 18 1990 2016
dbSNP: rs797044523
rs797044523
0.882 21 37480756 frameshift variant -/A delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 18 1990 2016
dbSNP: rs549625604
rs549625604
0.752 0.280 12 76347713 frameshift variant -/A delins 6.0E-04
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.700 1.000 17 1999 2013
dbSNP: rs549625604
rs549625604
0.752 0.280 12 76347713 frameshift variant -/A delins 6.0E-04
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.700 1.000 17 1999 2013
dbSNP: rs1555564175
rs1555564175
1.000 17 44853630 frameshift variant -/A delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 15 2006 2017
dbSNP: rs1555564175
rs1555564175
1.000 17 44853630 frameshift variant -/A delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.700 1.000 15 2006 2017
dbSNP: rs1555392032
rs1555392032
1.000 15 38339805 frameshift variant -/A delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.700 1.000 14 1988 2013
dbSNP: rs1555392032
rs1555392032
1.000 15 38339805 frameshift variant -/A delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 14 1988 2013
dbSNP: rs1555392032
rs1555392032
1.000 15 38339805 frameshift variant -/A delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.700 1.000 14 1988 2013
dbSNP: rs1553212626
rs1553212626
1.000 1 151406151 frameshift variant -/A delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.700 1.000 13 1999 2017
dbSNP: rs1553212626
rs1553212626
1.000 1 151406151 frameshift variant -/A delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.700 1.000 13 1999 2017
dbSNP: rs1553212626
rs1553212626
1.000 1 151406151 frameshift variant -/A delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 13 1999 2017
dbSNP: rs397508414
rs397508414
1.000 0.120 7 117602865 splice region variant -/A ins 5.6E-05 9.1E-05
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
0.700 1.000 12 2000 2016
dbSNP: rs398123799
rs398123799
0.925 0.120 2 71681032 frameshift variant -/A delins
CUI: C2931687
Disease: Dysferlinopathy
Dysferlinopathy
0.700 1.000 12 2000 2017
dbSNP: rs587780645
rs587780645
1.000 0.200 11 108365415 frameshift variant -/A delins
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
0.700 1.000 12 1996 2016
dbSNP: rs886041185
rs886041185
0.925 0.320 8 99835295 frameshift variant -/A delins
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.700 1.000 12 1998 2015