Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs770374710
MAGEL2
0.611 0.560 15 23645747 frameshift variant G/-;GG delins 87
rs61753219
PEX6
0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 64
rs1010184002
PEX6
0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 60
rs121918459
PTPN11
0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 46
rs1557043622
SLC35A2
0.695 0.400 X 48909843 missense variant C/A snv 46
rs1569548274
MECP2
0.701 0.520 X 154030553 splice acceptor variant TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/- delins 43
rs587782995
PURA
0.708 0.360 5 140114480 missense variant T/C snv 42
rs151344517
LOC107985154 ; AFG3L2 ; TUBB6
0.742 0.320 18 12337505 missense variant C/T snv 31
rs66527965
COL1A1
0.763 0.240 17 50193038 missense variant C/A;T snv 29
rs312262690
ANTXR2
0.752 0.320 4 79984831 frameshift variant -/G;GG delins 1.7E-05 28
rs759191907
LOC105379841 ; ENG
0.776 0.360 9 127825225 splice region variant A/G snv 8.0E-06 25
rs61816761
FLG ; FLG-AS1
0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 24
rs587784177
NSD1
0.790 0.280 5 177283827 missense variant G/A snv 20
rs1064795104
EXOC6B
0.790 0.440 2 72498492 stop gained A/C snv 17
rs863225045
ALDH18A1
0.790 0.360 10 95637327 missense variant C/A;T snv 15
rs139751598
PYCR1
0.851 0.240 17 81934931 missense variant C/T snv 2.4E-05 4.2E-05 13
rs76763715
GBA
0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03 11
rs751093906
SLC20A2
0.882 0.200 8 42472255 stop gained G/A;C snv 4.0E-06 8
rs1555222973
CREB3L1
0.851 0.160 11 46312636 inframe deletion AAG/- delins 6
rs1423415130
XYLT2
0.851 0.120 17 50360241 missense variant G/A snv 7.0E-06 6
rs1569508922
ALG13
0.882 0.160 X 111681268 missense variant T/A snv 5
rs72645347
COL1A1
0.790 0.280 17 50196337 missense variant G/A snv 5
rs527624522
EXT2
0.925 0.080 11 44107723 missense variant C/T snv 6.4E-05 2.1E-05 5
rs5742905
CBS
0.701 0.360 21 43063074 missense variant A/G snv 4
rs1057516036
COL1A2
0.925 0.160 7 94423065 missense variant G/A snv 4