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: rs140047318
rs140047318
BMPR1B
3 0.882 0.080 4 95152757 missense variant G/A;C;T snv 1.6E-05; 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs199566527
rs199566527
NOG
3 0.882 0.080 17 56594498 missense variant G/A snv 1.7E-03 1.7E-03 0.010 1.000 1 2012 2012
dbSNP: rs77096466
rs77096466
GNAS
1 1.000 0.080 20 58905474 missense variant C/T snv 0.010 1.000 1 2011 2011
dbSNP: rs1057519324
rs1057519324
NPR2
4 0.925 0.080 9 35801153 stop gained C/T snv 7.0E-06 0.700 0
dbSNP: rs1567690011
rs1567690011
PRMT7
9 0.882 0.080 16 68337496 frameshift variant AG/- delins 0.700 0
dbSNP: rs1567721991
rs1567721991
PRMT7
9 0.882 0.080 16 68347257 frameshift variant -/GCTCTCCG delins 0.700 0
dbSNP: rs387906836
rs387906836
TULP1
5 0.851 0.080 6 35503763 missense variant G/A snv 0.700 0
dbSNP: rs267607016
rs267607016
ROR2
3 0.882 0.120 9 91726603 stop gained G/A snv 4.0E-06 1.4E-05 0.010 1.000 1 2009 2009
dbSNP: rs137853027
rs137853027
DYNC2H1
15 0.827 0.120 11 103220720 missense variant A/G snv 2.4E-04 2.6E-04 0.700 0
dbSNP: rs1555154946
rs1555154946
ARID2 ; LOC105369745
16 0.827 0.120 12 45850644 stop gained C/T snv 0.700 0
dbSNP: rs1556165162
rs1556165162
HDAC8
7 0.882 0.120 X 72572657 frameshift variant GG/- delins 0.700 0
dbSNP: rs1565311145
rs1565311145
DYNC2H1
7 0.882 0.120 11 103116677 stop gained T/A snv 0.700 0
dbSNP: rs1565317399
rs1565317399
DYNC2H1
6 0.882 0.120 11 103122879 stop gained C/T snv 0.700 0
dbSNP: rs371011047
rs371011047
DYNC2H1
9 0.882 0.120 11 103120982 stop gained G/T snv 2.8E-05 0.700 0
dbSNP: rs587784000
rs587784000
NIPBL
5 0.882 0.120 5 37044480 missense variant G/C;T snv 0.700 0
dbSNP: rs764926983
rs764926983
DYNC2H1
9 0.882 0.120 11 103287559 synonymous variant G/A snv 1.2E-05 0.700 0
dbSNP: rs767846762
rs767846762
DYNC2H1
7 0.882 0.120 11 103176241 frameshift variant AA/- delins 1.0E-05 0.700 0
dbSNP: rs776587763
rs776587763
FGFR2
7 0.790 0.120 10 121520085 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs1567499068
rs1567499068
SCAPER
6 0.882 0.160 15 76574190 frameshift variant G/- delins 0.700 1.000 1 2019 2019
dbSNP: rs863225094
rs863225094
PPP2R1A
10 0.827 0.160 19 52213076 missense variant G/A snv 0.700 0
dbSNP: rs886039795
rs886039795
TMEM256 ; TMEM256-PLSCR3
10 0.851 0.160 17 7403143 frameshift variant CACTCAGAGCCTGGTAGTAAAA/- del 0.700 0
dbSNP: rs886039813
rs886039813
OFD1
8 0.827 0.160 X 13756600 frameshift variant C/- delins 0.700 0
dbSNP: rs1057518972
rs1057518972
TRPS1
7 0.827 0.200 8 115418359 missense variant C/T snv 0.700 0
dbSNP: rs1057520063
rs1057520063
GLI3
13 0.763 0.200 7 41964641 frameshift variant -/A delins 0.700 0
dbSNP: rs587776917
rs587776917
ECEL1
13 0.776 0.200 2 232485937 stop gained -/T delins 0.700 0