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: rs2465625
rs2465625 		1 12 46956964 regulatory region variant G/T snv 0.98 0.700 1.000 1 2012 2012
dbSNP: rs9322913
rs9322913 		1 14 32900409 intergenic variant G/T snv 0.98 0.700 1.000 1 2012 2012
dbSNP: rs1451538
rs1451538
SLC28A1
2 15 84921399 intron variant T/C snv 0.95 0.700 1.000 1 2018 2018
dbSNP: rs4800181
rs4800181
OSBPL1A
1 18 24208783 intron variant G/A snv 0.94 0.700 1.000 1 2012 2012
dbSNP: rs7156573
rs7156573
HIF1A ; HIF1A-AS3
1 14 61711103 intron variant G/A snv 0.94 0.700 1.000 1 2012 2012
dbSNP: rs6461992
rs6461992
HOXA10 ; HOXA11 ; HOXA10-HOXA9
5 1.000 0.120 7 27181212 3 prime UTR variant A/G snv 0.93 0.700 1.000 1 2018 2018
dbSNP: rs4722675
rs4722675
HOTTIP
4 7 27204343 intron variant A/G snv 0.93 0.700 1.000 1 2018 2018
dbSNP: rs3735533
rs3735533
HOTTIP
4 7 27206274 non coding transcript exon variant T/C snv 0.93 0.700 1.000 1 2018 2018
dbSNP: rs5883070
rs5883070 		5 7 27240226 intron variant -/AAAACA;AACA delins 0.91 0.700 1.000 1 2018 2018
dbSNP: rs7406910
rs7406910
HOXB7
3 17 48610894 missense variant T/C snv 0.88 0.88 0.700 1.000 1 2018 2018
dbSNP: rs10255839
rs10255839
EVX1
6 7 27249498 intron variant G/A snv 0.87 0.700 1.000 1 2018 2018
dbSNP: rs2999159
rs2999159
MOV10
4 1 112688136 intron variant A/G snv 0.85 0.700 1.000 1 2018 2018
dbSNP: rs2881854
rs2881854
ENPEP
2 4 110422107 intron variant C/A snv 0.83 0.700 1.000 1 2018 2018
dbSNP: rs284844
rs284844
WBP1L
3 10 102794772 intron variant A/G snv 0.82 0.700 1.000 2 2017 2018
dbSNP: rs604723
rs604723
ARHGAP42
9 1.000 0.040 11 100739815 intron variant T/C snv 0.78 0.700 1.000 3 2015 2018
dbSNP: rs670401
rs670401
ARHGAP42
3 11 100701679 intron variant A/G snv 0.76 0.700 1.000 1 2018 2018
dbSNP: rs7791745
rs7791745 		2 7 42345021 regulatory region variant T/C snv 0.73 0.700 1.000 1 2013 2013
dbSNP: rs2286525
rs2286525
TBX2-AS1
3 17 61394762 intron variant G/A snv 0.73 0.700 1.000 1 2018 2018
dbSNP: rs7302981
rs7302981
CERS5
4 12 50144032 missense variant A/G;T snv 0.69 0.71 0.700 1.000 1 2016 2016
dbSNP: rs7953257
rs7953257
HECTD4
5 12 112246417 intron variant A/G;T snv 0.71 0.700 1.000 1 2018 2018
dbSNP: rs1407040
rs1407040
GNAS
4 20 58897119 intron variant C/T snv 0.70 0.700 1.000 1 2018 2018
dbSNP: rs2484294
rs2484294 		4 10 114032303 intergenic variant G/A snv 0.70 0.700 1.000 1 2018 2018
dbSNP: rs740746
rs740746 		8 10 114033028 intergenic variant G/A snv 0.70 0.700 1.000 1 2018 2018
dbSNP: rs7076938
rs7076938
LOC105378493
3 10 114029616 intergenic variant C/T snv 0.69 0.700 1.000 1 2016 2016
dbSNP: rs1020992
rs1020992 		1 5 114804484 intergenic variant T/A snv 0.68 0.700 1.000 1 2018 2018