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: rs11545664
rs11545664
ENG
0.925 0.120 9 127843106 synonymous variant C/T snv 9.3E-02 0.14
CUI: C0158570
Disease: Vascular anomaly
Vascular anomaly 		0.010 < 0.001 1 2015 2015
dbSNP: rs201393380
rs201393380
ENG ; LOC105379841
0.925 0.120 9 127825767 missense variant C/G snv 1.3E-04 7.8E-04
CUI: C0158570
Disease: Vascular anomaly
Vascular anomaly 		0.010 < 0.001 1 2015 2015
dbSNP: rs638203
rs638203
TEK
9 27203136 intron variant A/G;T snv 0.47; 1.2E-05
CUI: C0158570
Disease: Vascular anomaly
Vascular anomaly 		0.010 1.000 1 2013 2013
dbSNP: rs639225
rs639225
TEK
9 27202872 synonymous variant A/G snv 0.47 0.46
CUI: C0158570
Disease: Vascular anomaly
Vascular anomaly 		0.010 1.000 1 2013 2013
dbSNP: rs80338908
rs80338908
TEK
0.882 0.120 9 27206762 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0158570
Disease: Vascular anomaly
Vascular anomaly 		0.010 1.000 1 2019 2019