Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs199474657
TRNL1 ; ND1 ; ND2
0.752 0.360 MT 3243 non coding transcript exon variant A/G snv 15
rs137852552
SHOX
1.000 0.080 Y 641037 stop gained C/A;T snv 2
rs193922466
SHOX
Y 634687 missense variant A/G snv 1
rs1557043622
SLC35A2
0.695 0.400 X 48909843 missense variant C/A snv 46
rs1555954284
DDX3X
0.752 0.360 X 41346607 missense variant C/T snv 24
rs1569525894
SLC9A6
0.790 0.280 X 136040055 frameshift variant TCTTCCTTAACCACCGC/- delins 14
rs1057518834
DMD
X 32849737 frameshift variant C/- delins 9
rs875989883
PTCHD1-AS ; PHEX
0.851 0.280 X 22219070 missense variant G/A;C snv 9
rs1057519338
AMMECR1
0.882 X 110264571 stop gained G/A snv 8
rs1556165162
HDAC8
0.882 0.120 X 72572657 frameshift variant GG/- delins 7
rs1557024919
HUWE1
0.925 0.240 X 53634235 splice donor variant C/G snv 7
rs1557036757
HUWE1
0.925 0.240 X 53647375 missense variant G/A snv 7
rs1557106484
ATRX
X 77633315 missense variant C/A snv 7
rs1569162748
OFD1
0.925 0.120 X 13767142 frameshift variant AAATT/- del 7
rs121434616
CUL4B
0.925 0.080 X 120544179 stop gained G/A snv 6
rs1556912828
HUWE1
0.925 0.280 X 53536209 missense variant G/C snv 6
rs765498367
LOC105373312 ; AMMECR1
0.925 X 110317643 stop gained A/G;T snv 1.2E-04 2.8E-05 6
rs1057516037
HDAC8
0.925 X 72464626 protein altering variant TGGAG/AC delins 4
rs1556024875
THOC2
0.882 0.160 X 123634002 missense variant G/A snv 4
rs28935469
FLNA
0.882 0.280 X 154367844 missense variant G/A snv 4
rs1230432769
OTUD5 ; KCND1
X 48962751 missense variant G/A snv 2.9E-05 1
rs1569148952
H2AP ; SYTL5
X 37991160 frameshift variant TG/- del 1
rs1569197778
LOC101928692 ; USP51
X 55488927 stop gained G/A snv 1
rs1569405174
LOC105373312 ; AMMECR1
X 110317618 frameshift variant G/- delins 1
rs202070666
PLXNA3
X 154460239 missense variant G/A snv 2.2E-04 6.5E-04 1