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: rs863225264
rs863225264
MTOR
0.827 0.240 1 11130747 missense variant C/T snv
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		0.020 1.000 2 2015 2016
dbSNP: rs121908671
rs121908671
LRP5
0.851 0.120 11 68357801 missense variant G/A snv
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		0.010 1.000 1 2005 2005
dbSNP: rs121909219
rs121909219
PTEN
0.689 0.400 10 87957915 stop gained C/A;T snv
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		0.010 1.000 1 2000 2000
dbSNP: rs121917758
rs121917758
HRAS ; LRRC56
0.851 0.160 11 533883 missense variant G/A snv
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		0.010 1.000 1 2012 2012
dbSNP: rs28933068
rs28933068
FGFR3
0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		0.010 1.000 1 1996 1996
dbSNP: rs61748404
rs61748404
MECP2
0.882 0.120 X 154031373 missense variant G/C;T snv
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		0.010 < 0.001 1 2013 2013
dbSNP: rs765798990
rs765798990
PIK3CD
0.925 0.120 1 9717609 missense variant G/A;T snv 4.0E-06
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		0.010 1.000 1 2016 2016
dbSNP: rs794729664
rs794729664
PTEN
0.925 0.240 10 87952170 stop gained T/A;C;G snv
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		0.010 1.000 1 2016 2016
dbSNP: rs863225460
rs863225460
PIK3CA
0.882 0.200 3 179199160 missense variant T/A snv
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		0.010 1.000 1 2016 2016
dbSNP: rs9651492
rs9651492
PTEN
0.882 0.160 10 87933216 missense variant G/A;C snv
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		0.010 1.000 1 2007 2007