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: rs104893895
rs104893895
MSX2
3 0.882 0.160 5 174729222 missense variant C/A;T snv 0.010 1.000 1 1996 1996
dbSNP: rs1318358361
rs1318358361
ARID1B
13 0.724 0.240 6 156778678 missense variant C/G snv 2.1E-05 0.010 1.000 1 1997 1997
dbSNP: rs140598
rs140598
FBN1
5 0.827 0.160 15 48487333 missense variant G/A;C snv 3.2E-02 0.010 1.000 1 1997 1997
dbSNP: rs1458741036
rs1458741036
FGFR2
2 0.925 0.080 10 121515287 missense variant G/A snv 3.5E-05 0.010 1.000 1 1997 1997
dbSNP: rs374608214
rs374608214
FGFR2
13 0.742 0.160 10 121520010 missense variant G/C snv 4.0E-06 7.0E-06 0.010 1.000 1 1997 1997
dbSNP: rs121918488
rs121918488
FGFR2
7 0.790 0.120 10 121517379 missense variant A/C;G;T snv 0.010 1.000 1 1999 1999
dbSNP: rs121909627
rs121909627
FGFR1
8 0.776 0.200 8 38424690 missense variant G/C snv 4.0E-06 0.020 1.000 2 1997 2000
dbSNP: rs213950
rs213950
CFTR ; CFTR-AS1
16 0.716 0.320 7 117559479 missense variant G/A snv 0.47 0.57 0.010 1.000 1 2000 2000