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: rs76917914
rs76917914
ANP32B
1 9 98009158 intron variant A/G snv 0.25 0.700 1.000 1 2016 2016
dbSNP: rs415895
rs415895
SWAP70
6 11 9748015 missense variant C/G snv 0.62 0.61 0.700 1.000 1 2016 2016
dbSNP: rs17462893
rs17462893 		1 5 95827733 downstream gene variant A/G snv 0.13 0.700 1.000 1 2016 2016
dbSNP: rs10067881
rs10067881 		1 5 95826771 upstream gene variant G/A snv 9.4E-02 0.700 1.000 1 2016 2016
dbSNP: rs57675369
rs57675369 		1 5 95826714 upstream gene variant -/G ins 0.14 0.700 1.000 1 2016 2016
dbSNP: rs11021221
rs11021221 		4 11 95575690 intron variant T/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs301043
rs301043
METAP2
1 12 95493245 intron variant A/G snv 0.35 0.700 1.000 1 2016 2016
dbSNP: rs72449396
rs72449396 		1 12 95464207 downstream gene variant AA/-;A;AAA delins 0.34 0.700 1.000 1 2016 2016
dbSNP: rs6600233
rs6600233
NPRL3
3 16 93505 intron variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs4761702
rs4761702
LOC643339 ; LOC105369909
1 12 93316116 downstream gene variant T/C snv 0.36 0.700 1.000 1 2016 2016
dbSNP: rs62132342
rs62132342
ARID3A
1 19 930799 intron variant A/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs3748136
rs3748136 		2 8 9172650 intron variant G/A snv 0.21 0.700 1.000 1 2016 2016
dbSNP: rs365309
rs365309
LOC102724880
1 8 9169430 intron variant A/G snv 0.30 0.700 1.000 1 2016 2016
dbSNP: rs440932
rs440932
LOC102724880
1 8 9169419 intron variant T/C snv 0.32 0.700 1.000 1 2016 2016
dbSNP: rs378974
rs378974
LOC102724880
1 8 9169129 non coding transcript exon variant C/T snv 0.29 0.700 1.000 1 2016 2016
dbSNP: rs1683587
rs1683587
R3HDM4
1 19 913048 intron variant G/A;C snv 0.23 0.700 1.000 1 2016 2016
dbSNP: rs111932385
rs111932385
R3HDM4
1 19 906510 intron variant G/A snv 1.2E-02 0.700 1.000 1 2016 2016
dbSNP: rs9939914
rs9939914
TCF25 ; LOC112268179
2 16 89873521 upstream gene variant T/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs12985393
rs12985393
R3HDM4
1 19 898288 intron variant C/T snv 0.21 0.700 1.000 1 2016 2016
dbSNP: rs58785784
rs58785784
SEMA4D
1 9 89416446 intron variant AT/- del 0.22 0.700 1.000 1 2016 2016
dbSNP: rs56339712
rs56339712
SEMA4D
1 9 89410842 intron variant C/T snv 0.22 0.700 1.000 1 2016 2016
dbSNP: rs11526468
rs11526468
SEMA4D
1 9 89388764 missense variant C/T snv 0.27 0.22 0.700 1.000 1 2016 2016
dbSNP: rs2968478
rs2968478 		4 16 88792238 intergenic variant T/G snv 0.61 0.700 1.000 1 2016 2016
dbSNP: rs2926772
rs2926772
PIEZO1 ; LOC107984842
1 16 88785260 upstream gene variant T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs73652622
rs73652622 		1 9 88783043 intron variant A/G snv 0.11 0.700 1.000 1 2016 2016