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: rs10110094
rs10110094 		1 8 130459801 intergenic variant A/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs11185408
rs11185408 		1 1 104249635 intergenic variant G/A;C snv 0.55 0.700 1.000 1 2019 2019
dbSNP: rs111931861
rs111931861
KMT2E
1 7 105103772 non coding transcript exon variant A/G snv 4.5E-02 0.700 1.000 1 2019 2019
dbSNP: rs113764414
rs113764414
EGR2
1 10 62889636 intron variant A/G snv 3.6E-04 0.700 1.000 1 2019 2019
dbSNP: rs138867053
rs138867053
ZNF568
1 19 36948739 intron variant G/A snv 1.4E-02 0.700 1.000 1 2019 2019
dbSNP: rs141455452
rs141455452
MAPT
1 17 45941717 intron variant T/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs142920272
rs142920272
KANSL1
1 17 46224474 intron variant T/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs142968358
rs142968358 		1 6 23819007 intergenic variant G/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs143609523
rs143609523
GALNT1
1 18 35685266 intron variant A/G snv 5.8E-03 0.700 1.000 1 2019 2019
dbSNP: rs148587110
rs148587110 		1 3 20600474 intron variant T/C snv 8.1E-03 0.700 1.000 1 2019 2019
dbSNP: rs1867503
rs1867503
TF ; INHCAP
1 3 133691804 non coding transcript exon variant G/A snv 0.60 0.700 1.000 1 2015 2015
dbSNP: rs201910565
rs201910565 		1 1 96096246 regulatory region variant T/-;TT;TTT delins 0.700 1.000 1 2019 2019
dbSNP: rs210894
rs210894
ADTRP
1 6 11731766 non coding transcript exon variant T/A snv 0.43 0.700 1.000 1 2019 2019
dbSNP: rs2635182
rs2635182
LINC02058
1 5 92919459 intron variant C/T snv 0.38 0.700 1.000 1 2019 2019
dbSNP: rs59566011
rs59566011
PKP4
1 2 158528670 intron variant AAAAAA/-;A;AAA;AAAA;AAAAA;AAAAAAA;AAAAAAAA;AAAAAAAAA;AAAAAAAAAA delins 0.700 1.000 1 2019 2019
dbSNP: rs6047270
rs6047270
KIZ
1 20 21141571 intron variant T/C snv 0.59 0.700 1.000 1 2019 2019
dbSNP: rs6692705
rs6692705 		1 1 193533479 intron variant A/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs6701243
rs6701243 		1 1 98627228 intergenic variant A/C snv 0.37 0.700 1.000 1 2019 2019
dbSNP: rs71190156
rs71190156
MACROD2
1 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 0.700 1.000 1 2019 2019
dbSNP: rs72934503
rs72934503 		1 6 98135612 intron variant A/G snv 1.8E-05 0.700 1.000 1 2019 2019
dbSNP: rs740883
rs740883
GABBR1
1 6 29607628 intron variant A/T snv 9.7E-02 0.700 1.000 1 2019 2019
dbSNP: rs77691144
rs77691144
PCDH9
1 13 66396080 intron variant T/C snv 2.2E-02 0.700 1.000 1 2019 2019
dbSNP: rs910805
rs910805 		1 20 21267478 downstream gene variant G/A snv 0.77 0.700 1.000 1 2019 2019
dbSNP: rs10211550
rs10211550
MOB4 ; HSPE1-MOB4
2 1.000 0.040 2 197518575 intron variant G/T snv 0.37 0.700 1.000 1 2017 2017
dbSNP: rs1024582
rs1024582
CACNA1C
2 1.000 0.040 12 2293080 intron variant A/G;T snv 0.700 1.000 1 2017 2017