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: rs104894544
rs104894544
ACTG1 ; FSCN2
1.000 0.120 17 81511913 missense variant T/A;C snv
CUI: C1858172
Disease: Deafness, Autosomal Dominant 20
Deafness, Autosomal Dominant 20 		0.800 1.000 7 2003 2014
dbSNP: rs104894545
rs104894545
ACTG1
1.000 0.120 17 81510824 missense variant G/C snv
CUI: C1858172
Disease: Deafness, Autosomal Dominant 20
Deafness, Autosomal Dominant 20 		0.800 1.000 7 2003 2014
dbSNP: rs104894546
rs104894546
ACTG1 ; FSCN2
1.000 0.120 17 81511199 missense variant G/A snv
CUI: C1858172
Disease: Deafness, Autosomal Dominant 20
Deafness, Autosomal Dominant 20 		0.800 1.000 7 2003 2014
dbSNP: rs104894547
rs104894547
ACTG1
1.000 0.120 17 81510709 missense variant A/G snv
CUI: C1858172
Disease: Deafness, Autosomal Dominant 20
Deafness, Autosomal Dominant 20 		0.800 1.000 7 2003 2014
dbSNP: rs28999111
rs28999111
ACTG1 ; FSCN2
1.000 0.120 17 81512000 missense variant G/A snv
CUI: C1858172
Disease: Deafness, Autosomal Dominant 20
Deafness, Autosomal Dominant 20 		0.800 1.000 7 2003 2014
dbSNP: rs28999112
rs28999112
ACTG1 ; FSCN2
1.000 0.120 17 81511078 missense variant G/A snv
CUI: C1858172
Disease: Deafness, Autosomal Dominant 20
Deafness, Autosomal Dominant 20 		0.800 1.000 7 2003 2014
dbSNP: rs11549190
rs11549190
ACTG1 ; FSCN2
1.000 17 81511586 missense variant G/A snv
CUI: C3281235
Disease: BARAITSER-WINTER SYNDROME 2
BARAITSER-WINTER SYNDROME 2 		0.800 1.000 1 2015 2015
dbSNP: rs281875325
rs281875325
ACTG1 ; FSCN2
1.000 17 81511907 missense variant G/A snv
CUI: C3281235
Disease: BARAITSER-WINTER SYNDROME 2
BARAITSER-WINTER SYNDROME 2 		0.800 1.000 1 2012 2012
dbSNP: rs281875326
rs281875326
ACTG1 ; FSCN2
1.000 17 81511526 missense variant G/A snv
CUI: C3281235
Disease: BARAITSER-WINTER SYNDROME 2
BARAITSER-WINTER SYNDROME 2 		0.800 1.000 1 2012 2012
dbSNP: rs281875327
rs281875327
ACTG1 ; FSCN2
1.000 17 81511382 missense variant G/T snv
CUI: C3281235
Disease: BARAITSER-WINTER SYNDROME 2
BARAITSER-WINTER SYNDROME 2 		0.800 1.000 1 2012 2012
dbSNP: rs281875328
rs281875328
ACTG1 ; FSCN2
1.000 17 81511230 missense variant G/A;T snv 4.0E-06
CUI: C3281235
Disease: BARAITSER-WINTER SYNDROME 2
BARAITSER-WINTER SYNDROME 2 		0.800 1.000 1 2012 2012
dbSNP: rs281875329
rs281875329
ACTG1 ; FSCN2
0.925 0.120 17 81511224 missense variant G/A;T snv 4.0E-06
CUI: C3281235
Disease: BARAITSER-WINTER SYNDROME 2
BARAITSER-WINTER SYNDROME 2 		0.800 1.000 1 2012 2012
dbSNP: rs267606630
rs267606630
ACTG1 ; FSCN2
1.000 0.120 17 81511912 missense variant C/G;T snv 8.0E-06
CUI: C1858172
Disease: Deafness, Autosomal Dominant 20
Deafness, Autosomal Dominant 20 		0.800 0
dbSNP: rs267606631
rs267606631
ACTG1 ; FSCN2
1.000 0.120 17 81511269 missense variant C/T snv
CUI: C1858172
Disease: Deafness, Autosomal Dominant 20
Deafness, Autosomal Dominant 20 		0.800 0
dbSNP: rs1555666392
rs1555666392
ACTG1
1.000 17 81510814 missense variant C/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 13 1990 2017
dbSNP: rs1555666392
rs1555666392
ACTG1
1.000 17 81510814 missense variant C/T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 13 1990 2017
dbSNP: rs281875330
rs281875330
ACTG1 ; FSCN2
1.000 0.120 17 81511626 missense variant T/C snv
CUI: C1858172
Disease: Deafness, Autosomal Dominant 20
Deafness, Autosomal Dominant 20 		0.700 1.000 7 2003 2014
dbSNP: rs1140892
rs1140892
ACTG1
17 81510330 splice acceptor variant C/T snv 1.8E-02 1.9E-02
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 1.000 1 2019 2019
dbSNP: rs1057518673
rs1057518673
ACTG1 ; FSCN2
1.000 17 81512237 missense variant G/A snv
CUI: C3281235
Disease: BARAITSER-WINTER SYNDROME 2
BARAITSER-WINTER SYNDROME 2 		0.700 0
dbSNP: rs11549196
rs11549196
ACTG1 ; FSCN2
1.000 17 81511560 missense variant C/A;T snv
CUI: C3281235
Disease: BARAITSER-WINTER SYNDROME 2
BARAITSER-WINTER SYNDROME 2 		0.700 0
dbSNP: rs281875329
rs281875329
ACTG1 ; FSCN2
0.925 0.120 17 81511224 missense variant G/A;T snv 4.0E-06
CUI: C1858172
Disease: Deafness, Autosomal Dominant 20
Deafness, Autosomal Dominant 20 		0.700 0
dbSNP: rs281875329
rs281875329
ACTG1 ; FSCN2
0.925 0.120 17 81511224 missense variant G/A;T snv 4.0E-06
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.700 0
dbSNP: rs587780275
rs587780275
ACTG1 ; FSCN2
1.000 17 81511392 missense variant A/T snv
CUI: C3281235
Disease: BARAITSER-WINTER SYNDROME 2
BARAITSER-WINTER SYNDROME 2 		0.700 0
dbSNP: rs281875330
rs281875330
ACTG1 ; FSCN2
1.000 0.120 17 81511626 missense variant T/C snv
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.010 1.000 1 2008 2008