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: rs1874984
rs1874984
10 1689677 intron variant G/C snv 0.43
CUI: C1314691
Disease: Age at menarche
Age at menarche
0.700 1.000 2 2014 2019
dbSNP: rs11250741
rs11250741
1.000 0.040 10 1697382 intron variant T/C;G snv 2.9E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.700 1.000 1 2017 2017
dbSNP: rs11814309
rs11814309
1.000 0.040 10 1702876 intron variant T/A snv 0.12
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.700 1.000 1 2017 2017
dbSNP: rs12245785
rs12245785
1.000 0.040 10 1696668 intron variant T/C snv 3.7E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.700 1.000 1 2017 2017
dbSNP: rs145022376
rs145022376
1.000 0.120 10 1186289 intron variant C/- delins 9.1E-03
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.700 1.000 1 2019 2019
dbSNP: rs150155092
rs150155092
10 1727688 intron variant TA/-;TATA delins 7.0E-06
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
0.700 1.000 1 2018 2018
dbSNP: rs1909436
rs1909436
1.000 0.040 10 1697417 intron variant C/T snv 0.23
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.700 1.000 1 2017 2017
dbSNP: rs2820651
rs2820651
1.000 0.040 10 1429570 intron variant C/A snv 0.14
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders
0.700 1.000 1 2013 2013
dbSNP: rs2820651
rs2820651
1.000 0.040 10 1429570 intron variant C/A snv 0.14
CUI: C0154723
Disease: Migraine with Aura
Migraine with Aura
0.700 1.000 1 2013 2013
dbSNP: rs2892394
rs2892394
1.000 0.040 10 1698084 intron variant C/A;T snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.700 1.000 1 2017 2017
dbSNP: rs4939821
rs4939821
1.000 0.040 18 48845622 intron variant C/T snv 0.24
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.700 1.000 1 2011 2011
dbSNP: rs6560743
rs6560743
10 1594941 intron variant T/C snv 0.75
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
0.700 1.000 1 2015 2015
dbSNP: rs7087342
rs7087342
1.000 10 1613599 intron variant G/A snv 0.11
Adverse effects, not elsewhere classified
0.700 1.000 1 2019 2019
dbSNP: rs7896371
rs7896371
10 1686832 intron variant C/T snv 0.41
CUI: C0005890
Disease: Body Height
Body Height
0.700 1.000 1 2019 2019
dbSNP: rs7924155
rs7924155
1.000 0.040 10 1694438 intron variant T/G snv 0.15
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.700 1.000 1 2017 2017
dbSNP: rs8640
rs8640
3 58168600 synonymous variant C/T snv 0.39 0.37
CUI: C0005890
Disease: Body Height
Body Height
0.700 1.000 1 2019 2019
dbSNP: rs138734198
rs138734198
1.000 0.080 10 1217099 missense variant C/T snv 1.8E-04 7.0E-04
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 0
dbSNP: rs80356518
rs80356518
1.000 0.080 3 58163161 stop gained T/C;G snv 4.0E-06
CUI: C0265283
Disease: Atelosteogenesis, type 1
Atelosteogenesis, type 1
0.700 0