Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs987233144
rs987233144
1.000 19 7444215 missense variant A/G snv 2.1E-05
CUI: C4479481
Disease: RETINITIS PIGMENTOSA 78
RETINITIS PIGMENTOSA 78
0.800 0
dbSNP: rs11667028
rs11667028
1.000 0.040 19 7436730 intron variant A/G snv 0.40
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs12979990
rs12979990
1.000 0.040 19 7455331 intron variant C/G snv 0.61
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs17255882
rs17255882
1.000 0.040 19 7439570 intron variant G/A snv 0.19
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs62111672
rs62111672
19 7350159 intron variant G/A snv 2.6E-02
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement
0.700 1.000 1 2016 2016
dbSNP: rs62111672
rs62111672
19 7350159 intron variant G/A snv 2.6E-02
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure
0.700 1.000 1 2019 2019
dbSNP: rs8102136
rs8102136
1.000 0.040 19 7439612 intron variant A/G snv 0.40
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs8110029
rs8110029
1.000 0.040 19 7438859 intron variant G/A snv 0.64
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs1064793000
rs1064793000
1.000 19 7462259 stop gained C/T snv 1.4E-05
CUI: C4479481
Disease: RETINITIS PIGMENTOSA 78
RETINITIS PIGMENTOSA 78
0.700 0
dbSNP: rs1064793001
rs1064793001
1.000 19 7467501 inframe deletion GGCTGGAGCAGGAGCGGGCCGAGC/- delins
CUI: C4479481
Disease: RETINITIS PIGMENTOSA 78
RETINITIS PIGMENTOSA 78
0.700 0
dbSNP: rs1064793002
rs1064793002
1.000 19 7456408 splice region variant G/A snv
CUI: C4479481
Disease: RETINITIS PIGMENTOSA 78
RETINITIS PIGMENTOSA 78
0.700 0
dbSNP: rs767689418
rs767689418
1.000 19 7467400 stop gained G/C;T snv 3.8E-05
CUI: C4479481
Disease: RETINITIS PIGMENTOSA 78
RETINITIS PIGMENTOSA 78
0.700 0
dbSNP: rs3745357
rs3745357
1.000 0.040 19 7472102 3 prime UTR variant G/A;C snv
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
Cardiovascular Diseases 0.010 1.000 1 2018 2018