Source: CLINVAR

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: rs757823678
rs757823678
1.000 0.160 2 25240312 missense variant C/A;T snv 4.0E-06
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.700 1.000 36 1989 2018
dbSNP: rs113001196
rs113001196
0.882 0.160 15 48432947 stop gained G/A snv
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.700 1.000 29 1986 2016
dbSNP: rs869025411
rs869025411
0.925 0.160 15 48432911 missense variant A/G snv
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.700 1.000 29 1986 2016
dbSNP: rs121918490
rs121918490
0.851 0.080 10 121517342 missense variant G/C snv
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.700 1.000 26 1985 2017
dbSNP: rs1553631770
rs1553631770
1.000 3 41233398 missense variant A/T snv
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.700 1.000 22 1991 2017
dbSNP: rs781978013
rs781978013
1.000 11 118472681 stop gained G/A;T snv 4.0E-06
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.700 1.000 22 1989 2017
dbSNP: rs1553156053
rs1553156053
1.000 1 42929652 stop gained G/A snv
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.700 1.000 21 1991 2016
dbSNP: rs1553479216
rs1553479216
2 166228902 stop gained C/T snv
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.700 1.000 21 1995 2016
dbSNP: rs1314314373
rs1314314373
1.000 14 99176115 stop gained G/A;C snv 4.1E-06
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.700 1.000 19 2003 2016
dbSNP: rs5030857
rs5030857
PAH
0.925 0.120 12 102840507 missense variant G/A snv 6.0E-04 5.6E-04
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.700 1.000 17 1993 2015
dbSNP: rs62508588
rs62508588
PAH
1.000 0.120 12 102852929 missense variant C/A;T snv 7.6E-05
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.700 1.000 17 1993 2015
dbSNP: rs768933093
rs768933093
0.807 0.240 12 76348214 missense variant G/A snv 4.8E-05 4.9E-05
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.700 1.000 17 1999 2013
dbSNP: rs778431173
rs778431173
12 76346181 missense variant C/A;G snv 4.0E-06 7.0E-06
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.700 1.000 17 1999 2013
dbSNP: rs1555244216
rs1555244216
1.000 12 115987290 splice acceptor variant T/C snv
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.700 1.000 16 1971 2018
dbSNP: rs1555950665
rs1555950665
1.000 X 41334255 start lost G/C snv
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.700 1.000 16 1989 2017
dbSNP: rs1057519927
rs1057519927
0.716 0.240 3 179218295 missense variant A/C;G;T snv
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.700 1.000 14 2006 2018
dbSNP: rs1060500126
rs1060500126
0.790 0.160 10 87933223 missense variant A/C;G snv
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.700 1.000 14 2001 2015
dbSNP: rs121909231
rs121909231
0.667 0.600 10 87961095 stop gained C/A;T snv
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.700 1.000 14 2001 2015
dbSNP: rs773724817
rs773724817
0.925 0.160 7 150948861 stop gained G/A snv 4.0E-06
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.700 1.000 14 1999 2016
dbSNP: rs867262025
rs867262025
0.790 0.360 3 179221146 missense variant G/A snv
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.700 1.000 14 2006 2018
dbSNP: rs111033178
rs111033178
0.851 0.200 11 77190108 missense variant G/A snv 7.5E-05 5.6E-05
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.700 1.000 13 1995 2011
dbSNP: rs111033284
rs111033284
11 77156991 missense variant G/A snv 1.6E-05 7.0E-06
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.700 1.000 13 1995 2011
dbSNP: rs1553283037
rs1553283037
1.000 1 244860382 missense variant T/C snv
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.700 1.000 13 2010 2017
dbSNP: rs1554708787
rs1554708787
1.000 9 95506567 stop gained C/T snv
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.700 1.000 13 1996 2016
dbSNP: rs587777618
rs587777618
0.925 12 4299977 missense variant A/G snv
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.700 1.000 13 2004 2018