Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs397507547
rs397507547
PTPN11
14 0.752 0.280 12 112489086 missense variant A/G snv 4.0E-06 0.700 1.000 2 2001 2005
dbSNP: rs121907925
rs121907925
PAX6
3 0.882 0.080 11 31793795 missense variant A/G snv 0.700 1.000 1 2003 2003
dbSNP: rs1329285216
rs1329285216
RBP4 ; FFAR4
2 0.925 0.080 10 93593997 missense variant A/T snv 0.700 1.000 1 2017 2017
dbSNP: rs1085307135
rs1085307135
PUF60
5 0.882 0.160 8 143818255 missense variant C/T snv 0.700 0
dbSNP: rs121907922
rs121907922
PAX6 ; ELP4
12 0.742 0.320 11 31789935 stop gained T/A snv 0.700 0
dbSNP: rs1554823375
rs1554823375
WDR37
8 0.851 0.160 10 1080454 missense variant C/T snv 0.700 0
dbSNP: rs1563595095
rs1563595095
CHD7
10 0.776 0.320 8 60781285 frameshift variant AA/T delins 0.700 0
dbSNP: rs201893408
rs201893408
TMEM67
28 0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04 0.700 0
dbSNP: rs398124401
rs398124401
SRD5A3
26 0.695 0.480 4 55346393 stop gained G/A snv 1.2E-04 2.8E-05 0.700 0
dbSNP: rs752362727
rs752362727
TMEM67
22 0.716 0.480 8 93786255 missense variant C/T snv 2.0E-05 0.700 0
dbSNP: rs786204849
rs786204849
FIBP
7 0.882 0.200 11 65885181 stop gained G/A snv 0.700 0
dbSNP: rs886041222
rs886041222
PAX6
8 0.776 0.280 11 31793787 stop gained G/A snv 0.700 0
dbSNP: rs200671094
rs200671094
BMP4
4 0.851 0.080 14 53950508 missense variant G/A;T snv 1.2E-04; 4.0E-06 0.010 < 0.001 1 2009 2009
dbSNP: rs552445199
rs552445199
TMX3
2 0.925 0.080 18 68711389 missense variant C/T snv 2.9E-05 1.4E-05 0.010 1.000 1 2010 2010
dbSNP: rs587777249
rs587777249
YAP1
2 0.925 0.080 11 102114192 stop gained C/T snv 0.010 1.000 1 2014 2014
dbSNP: rs587777250
rs587777250
YAP1
2 0.925 0.080 11 102223655 stop gained G/T snv 0.010 1.000 1 2014 2014
dbSNP: rs587777513
rs587777513
LRBA ; MAB21L2
2 0.925 0.080 4 150583174 missense variant G/A snv 0.010 1.000 1 2014 2014
dbSNP: rs587777514
rs587777514
LRBA ; MAB21L2
2 0.925 0.080 4 150583769 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs746066696
rs746066696
IPO13
2 0.925 0.080 1 43949663 missense variant C/T snv 8.0E-06 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs766630697
rs766630697
SOX2 ; SOX2-OT
1 1.000 0.080 3 181713055 missense variant C/A snv 1.6E-05 0.010 1.000 1 2008 2008
dbSNP: rs786205678
rs786205678
RARA
2 0.925 0.080 17 40354320 missense variant C/T snv 0.010 1.000 1 2019 2019