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: rs1057518791
rs1057518791
TRPS1
7 0.925 0.120 8 115604739 stop gained C/T snv 0.700 0
dbSNP: rs1057518817
rs1057518817
NPR2
4 1.000 0.080 9 35805944 frameshift variant GTGGTCCTTTC/- del 0.700 0
dbSNP: rs1060499549
rs1060499549
ZNF462
4 0.882 0.120 9 106927699 stop gained C/T snv 0.700 0
dbSNP: rs1060499550
rs1060499550
ZNF462
1 1.000 0.080 9 106926891 frameshift variant TG/A delins 0.700 0
dbSNP: rs1060499551
rs1060499551
ZNF462
1 1.000 0.080 9 106928174 frameshift variant A/- delins 0.700 0
dbSNP: rs121918491
rs121918491
FGFR2
15 0.716 0.440 10 121517371 synonymous variant C/T snv 4.0E-06 0.700 0
dbSNP: rs1276519904
rs1276519904
H3-3A
63 0.645 0.520 1 226071445 missense variant A/G snv 0.700 0
dbSNP: rs1554442015
rs1554442015
TWIST1
5 0.851 0.120 7 19116970 missense variant G/C snv 0.700 0
dbSNP: rs1554700718
rs1554700718
HNRNPK
59 0.658 0.360 9 83975540 non coding transcript exon variant T/C snv 0.700 0
dbSNP: rs1555103652
rs1555103652
GRIN2B
11 0.882 0.240 12 13569973 missense variant A/C snv 0.700 0
dbSNP: rs1557036768
rs1557036768
HUWE1
44 0.708 0.320 X 53647390 missense variant C/T snv 0.700 0
dbSNP: rs1564919048
rs1564919048
FGFR2
23 0.732 0.280 10 121520106 missense variant C/A snv 0.700 0
dbSNP: rs397515514
rs397515514
FGFR3
2 0.925 0.080 4 1807261 stop lost G/T snv 0.700 0
dbSNP: rs757744435
rs757744435
NPR2
4 1.000 0.080 9 35794009 missense variant A/G;T snv 0.700 0
dbSNP: rs770374710
rs770374710
MAGEL2
87 0.611 0.560 15 23645747 frameshift variant G/-;GG delins 0.700 0
dbSNP: rs771148519
rs771148519
WDR19
9 0.807 0.200 4 39225027 stop gained C/G snv 1.7E-05 1.4E-05 0.700 0
dbSNP: rs886043613
rs886043613
FGFR3
4 0.925 0.080 4 1801519 missense variant C/T snv 0.700 0
dbSNP: rs121918487
rs121918487
FGFR2
25 0.716 0.440 10 121517378 missense variant C/A;G;T snv 0.710 1.000 1 2017 2017
dbSNP: rs776587763
rs776587763
FGFR2
7 0.790 0.120 10 121520085 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.710 1.000 1 2017 2017
dbSNP: rs1057520044
rs1057520044
FGFR2
1 1.000 0.080 10 121498597 missense variant T/C snv 0.700 1.000 1 2007 2007
dbSNP: rs121918506
rs121918506
FGFR2
3 0.882 0.080 10 121496701 missense variant T/C;G snv 0.700 1.000 1 2007 2007
dbSNP: rs777169135
rs777169135
FGFR2
4 0.851 0.080 10 121488064 missense variant T/C;G snv 4.0E-06 0.700 1.000 1 2007 2007
dbSNP: rs786200952
rs786200952
KAT6A
13 0.851 0.120 8 41934340 frameshift variant -/T delins 0.700 1.000 1 2015 2015
dbSNP: rs1015443
rs1015443
PRH1 ; PRR4 ; TAS2R13 ; PRH1-PRR4
2 0.925 0.160 12 10908523 missense variant T/A;C snv 4.0E-06; 0.59 0.010 1.000 1 2014 2014
dbSNP: rs10204137
rs10204137
IL18R1 ; IL1RL1
2 0.925 0.160 2 102351752 missense variant A/G;T snv 0.34 0.010 1.000 1 2009 2009