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: rs1553538917
rs1553538917
SATB2
7 0.882 0.120 2 199272423 stop gained G/A snv 0.700 0
dbSNP: rs1553763618
rs1553763618
POLR3GL
4 0.925 0.040 1 145977482 splice acceptor variant G/A snv 0.700 0
dbSNP: rs1554032789
rs1554032789
NIPBL
13 0.925 0.160 5 37048547 missense variant T/A snv 0.700 0
dbSNP: rs1554196416
rs1554196416
PHIP ; IRAK1BP1
15 0.851 0.200 6 78958551 stop gained G/A snv 0.700 0
dbSNP: rs1554555063
rs1554555063
TMEM67
7 0.882 0.160 8 93791324 splice region variant G/A snv 0.700 0
dbSNP: rs1554846212
rs1554846212
KAT6B ; DUPD1
9 0.851 0.160 10 75030037 missense variant C/T snv 0.700 0
dbSNP: rs1554985320
rs1554985320
PAX6
3 0.925 0.240 11 31801619 stop gained C/T snv 0.700 0
dbSNP: rs1555038111
rs1555038111
KMT2A
37 0.701 0.480 11 118478153 stop gained T/G snv 0.700 0
dbSNP: rs1555103652
rs1555103652
GRIN2B
11 0.882 0.240 12 13569973 missense variant A/C snv 0.700 0
dbSNP: rs1555954284
rs1555954284
DDX3X
24 0.752 0.360 X 41346607 missense variant C/T snv 0.700 0
dbSNP: rs1557045296
rs1557045296
SLC6A8
4 1.000 X 153693971 missense variant C/T snv 0.700 0
dbSNP: rs1560092224
rs1560092224
ZBTB20
5 0.925 0.040 3 114339276 missense variant T/A snv 0.700 0
dbSNP: rs1565369746
rs1565369746
KCNK4 ; KCNK4-TEX40
5 11 64297507 missense variant C/A snv 0.700 0
dbSNP: rs1565977796
rs1565977796
CDK8
7 0.882 0.120 13 26337623 stop gained C/A snv 0.700 0
dbSNP: rs181109321
rs181109321
TTPA
17 0.776 0.320 8 63065904 splice region variant C/A;T snv 2.0E-05 0.700 0
dbSNP: rs200426926
rs200426926
THOC6 ; BICDL2
13 0.776 0.400 16 3027379 missense variant G/A;T snv 1.8E-04; 4.0E-06 0.700 0
dbSNP: rs201037487
rs201037487
FAM98C
7 0.925 0.120 19 38407003 stop gained C/G;T snv 4.0E-06; 1.4E-04; 4.0E-06 4.9E-05 0.700 0
dbSNP: rs201431517
rs201431517
MTFMT
17 0.827 0.200 15 65021533 missense variant G/A snv 3.5E-04 5.7E-04 0.700 0
dbSNP: rs202160208
rs202160208
GMPPB
9 0.827 0.160 3 49722056 missense variant C/T snv 2.9E-04 1.8E-04 0.700 0
dbSNP: rs267607093
rs267607093
SRD5A3
14 0.851 0.160 4 55359444 stop gained G/A snv 4.0E-06 0.700 0
dbSNP: rs367557471
rs367557471
CHD7
4 1.000 0.120 8 60822055 stop gained C/A;T snv 5.2E-05 7.0E-05 0.700 0
dbSNP: rs368313959
rs368313959
OTUD6B
8 0.851 0.080 8 91078383 stop gained C/T snv 1.6E-04 1.0E-04 0.700 0
dbSNP: rs374993554
rs374993554
TAF6
3 0.925 7 100113899 missense variant A/G;T snv 3.2E-05 0.700 0
dbSNP: rs376103091
rs376103091
EARS2
10 0.851 0.200 16 23544677 missense variant G/A snv 1.5E-04 2.0E-04 0.700 0
dbSNP: rs387906692
rs387906692
PRKAR1A ; FAM20A
11 0.752 0.480 17 68530405 stop gained C/T snv 0.700 0