Source: BEFREE

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: rs397514698
rs397514698
GNAQ
0.667 0.400 9 77797577 missense variant C/T snv
CUI: C0340803
Disease: Capillary malformation (disorder)
Capillary malformation (disorder) 		0.730 1.000 3 2016 2019
dbSNP: rs1057519942
rs1057519942
PIK3CA
0.724 0.320 3 179203760 missense variant G/A snv
CUI: C0340803
Disease: Capillary malformation (disorder)
Capillary malformation (disorder) 		0.010 1.000 1 2020 2020
dbSNP: rs1194412935
rs1194412935
IL17RA
1.000 0.080 22 17108826 missense variant T/C snv
CUI: C0340803
Disease: Capillary malformation (disorder)
Capillary malformation (disorder) 		0.010 1.000 1 2013 2013
dbSNP: rs1204340475
rs1204340475
CCNH ; RASA1
0.925 0.120 5 87376941 stop gained C/T snv 7.0E-06
CUI: C0340803
Disease: Capillary malformation (disorder)
Capillary malformation (disorder) 		0.010 1.000 1 2016 2016
dbSNP: rs137852677
rs137852677
STAT1
0.925 0.080 2 190975830 missense variant A/G snv
CUI: C0340803
Disease: Capillary malformation (disorder)
Capillary malformation (disorder) 		0.010 1.000 1 2012 2012
dbSNP: rs137852679
rs137852679
STAT1
0.925 0.080 2 190983699 missense variant C/A;T snv 4.0E-06
CUI: C0340803
Disease: Capillary malformation (disorder)
Capillary malformation (disorder) 		0.010 1.000 1 2012 2012
dbSNP: rs1442264858
rs1442264858
PDGFRB
0.925 0.160 5 150132750 missense variant C/T snv 4.1E-06
CUI: C0340803
Disease: Capillary malformation (disorder)
Capillary malformation (disorder) 		0.010 1.000 1 2016 2016
dbSNP: rs387906758
rs387906758
STAT1
0.851 0.080 2 190995185 missense variant G/A;C snv
CUI: C0340803
Disease: Capillary malformation (disorder)
Capillary malformation (disorder) 		0.010 1.000 1 2019 2019
dbSNP: rs387906760
rs387906760
STAT1
0.790 0.200 2 190995184 missense variant C/T snv
CUI: C0340803
Disease: Capillary malformation (disorder)
Capillary malformation (disorder) 		0.010 1.000 1 2017 2017
dbSNP: rs387906762
rs387906762
STAT1
0.925 0.080 2 190998246 missense variant T/C snv
CUI: C0340803
Disease: Capillary malformation (disorder)
Capillary malformation (disorder) 		0.010 1.000 1 2016 2016
dbSNP: rs397518485
rs397518485
TRAF3IP2 ; TRAF3IP2-AS1
0.925 0.080 6 111559523 missense variant G/A snv
CUI: C0340803
Disease: Capillary malformation (disorder)
Capillary malformation (disorder) 		0.010 1.000 1 2013 2013
dbSNP: rs587777630
rs587777630
STAT1
0.716 0.440 2 190986921 missense variant G/A snv
CUI: C0340803
Disease: Capillary malformation (disorder)
Capillary malformation (disorder) 		0.010 1.000 1 2012 2012