Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs137853165
rs137853165
STS
1.000 0.120 X 7325356 missense variant T/A snv
CUI: C0079588
Disease: Ichthyosis, X-Linked
Ichthyosis, X-Linked 		0.800 1.000 4 1992 2000
dbSNP: rs137853166
rs137853166
STS
1.000 0.120 X 7334066 missense variant G/A snv
CUI: C0079588
Disease: Ichthyosis, X-Linked
Ichthyosis, X-Linked 		0.800 1.000 4 1992 2000
dbSNP: rs137853167
rs137853167
STS
1.000 0.120 X 7305109 missense variant C/T snv
CUI: C0079588
Disease: Ichthyosis, X-Linked
Ichthyosis, X-Linked 		0.800 1.000 4 1992 2000
dbSNP: rs137853168
rs137853168
STS
1.000 0.120 X 7325357 missense variant G/C snv
CUI: C0079588
Disease: Ichthyosis, X-Linked
Ichthyosis, X-Linked 		0.800 1.000 4 1992 2000
dbSNP: rs137853169
rs137853169
STS
1.000 0.120 X 7334060 missense variant A/G snv
CUI: C0079588
Disease: Ichthyosis, X-Linked
Ichthyosis, X-Linked 		0.800 1.000 4 1992 2000
dbSNP: rs12689028
rs12689028
STS
1.000 0.080 X 7718359 intron variant T/C snv 0.15
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.700 1.000 1 2012 2012
dbSNP: rs12861247
rs12861247
STS
1.000 0.040 X 7256158 intron variant G/A snv 7.1E-02
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0.020 1.000 2 2008 2011
dbSNP: rs17268988
rs17268988
STS
1.000 0.040 X 7336440 intron variant C/G snv 0.22
CUI: C0424101
Disease: Inattention
Inattention 		0.020 1.000 2 2011 2017
dbSNP: rs17268988
rs17268988
STS
1.000 0.040 X 7336440 intron variant C/G snv 0.22
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0.020 1.000 2 2011 2017
dbSNP: rs12861247
rs12861247
STS
1.000 0.040 X 7256158 intron variant G/A snv 7.1E-02
CUI: C0424101
Disease: Inattention
Inattention 		0.010 1.000 1 2011 2011
dbSNP: rs17268974
rs17268974
STS
1.000 0.120 X 7318929 intron variant T/A;C snv
CUI: C1691215
Disease: Penile hypospadias
Penile hypospadias 		0.010 1.000 1 2018 2018
dbSNP: rs2270112
rs2270112
STS
1.000 0.040 X 7252884 intron variant C/G;T snv
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0.010 1.000 1 2017 2017
dbSNP: rs3923341
rs3923341
STS
1.000 0.120 X 7300859 intron variant C/T snv 0.40
CUI: C1691215
Disease: Penile hypospadias
Penile hypospadias 		0.010 1.000 1 2018 2018
dbSNP: rs5934740
rs5934740
STS
1.000 0.120 X 7239611 intron variant G/A;C snv
CUI: C1691215
Disease: Penile hypospadias
Penile hypospadias 		0.010 1.000 1 2018 2018
dbSNP: rs5934842
rs5934842
STS
1.000 0.120 X 7264242 intron variant C/A;G snv
CUI: C1691215
Disease: Penile hypospadias
Penile hypospadias 		0.010 1.000 1 2018 2018
dbSNP: rs5934913
rs5934913
STS
1.000 0.120 X 7294236 intron variant G/A snv 0.44
CUI: C1691215
Disease: Penile hypospadias
Penile hypospadias 		0.010 1.000 1 2018 2018
dbSNP: rs5934937
rs5934937
STS
1.000 0.120 X 7323041 intron variant C/A;G;T snv
CUI: C1691215
Disease: Penile hypospadias
Penile hypospadias 		0.010 1.000 1 2018 2018
dbSNP: rs6639811
rs6639811
STS
1.000 0.120 X 7297762 intron variant A/G snv 0.36
CUI: C1691215
Disease: Penile hypospadias
Penile hypospadias 		0.010 1.000 1 2018 2018