ACTG1, actin gamma 1, 71

N. diseases: 291; N. variants: 20
Disease: BARAITSER-WINTER SYNDROME 2 ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs11549190
rs11549190 		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 		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 		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 		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 		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 		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: rs1057518673
rs1057518673 		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 		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: rs587780275
rs587780275 		1.000 17 81511392 missense variant A/T snv
CUI: C3281235
Disease: BARAITSER-WINTER SYNDROME 2
BARAITSER-WINTER SYNDROME 2 		0.700 0