Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs10110094 8 130459801 intergenic variant A/C;G snv 1
rs11185408 1 104249635 intergenic variant G/A;C snv 0.55 1
rs142968358 6 23819007 intergenic variant G/A;T snv 1
rs148587110 3 20600474 intron variant T/C snv 8.1E-03 1
rs201910565 1 96096246 regulatory region variant T/-;TT;TTT delins 1
rs6692705 1 193533479 intron variant A/C;G snv 1
rs6701243 1 98627228 intergenic variant A/C snv 0.37 1
rs72934503 6 98135612 intron variant A/G snv 1.8E-05 1
rs910805 20 21267478 downstream gene variant G/A snv 0.77 1
rs210894
ADTRP
6 11731766 non coding transcript exon variant T/A snv 0.43 1
rs1409313
CUEDC2
1.000 0.040 10 102431844 intron variant T/C snv 0.85 1
rs113764414
EGR2
10 62889636 intron variant A/G snv 3.6E-04 1
rs740883
GABBR1
6 29607628 intron variant A/T snv 9.7E-02 1
rs143609523
GALNT1
18 35685266 intron variant A/G snv 5.8E-03 1
rs1867503
INHCAP ; TF
3 133691804 non coding transcript exon variant G/A snv 0.60 1
rs142920272
KANSL1
17 46224474 intron variant T/A;C snv 1
rs6047270
KIZ
20 21141571 intron variant T/C snv 0.59 1
rs111931861
KMT2E
7 105103772 non coding transcript exon variant A/G snv 4.5E-02 1
rs16976358
LINC00907
0.827 0.080 18 42611606 intron variant T/C snv 1.0E-02 1
rs2635182
LINC02058
5 92919459 intron variant C/T snv 0.38 1
rs71190156
MACROD2
20 14855598 intron variant TTTTTTTTTTTTTTTTTT/-;TT;TTT;TTTT;TTTTT;TTTTTT;TTTTTTT;TTTTTTTT;TTTTTTTTT;TTTTTTTTTT;TTTTTTTTTTT;TTTTTTTTTTTT;TTTTTTTTTTTTT;TTTTTTTTTTTTTT;TTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT delins 0.40 1
rs141455452
MAPT
17 45941717 intron variant T/C;G snv 1
rs77691144
PCDH9
13 66396080 intron variant T/C snv 2.2E-02 1
rs59566011
PKP4
2 158528670 intron variant AAAAAA/-;A;AAA;AAAA;AAAAA;AAAAAAA;AAAAAAAA;AAAAAAAAA;AAAAAAAAAA delins 1
rs138867053
ZNF568
19 36948739 intron variant G/A snv 1.4E-02 1