GCFC2, GC-rich sequence DNA-binding factor 2, 6936

N. diseases: 21; N. variants: 13
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: rs2298948
rs2298948
2 75699439 intron variant T/C snv 0.24
CUI: C4315130
Disease: Hippocampal atrophy
Hippocampal atrophy
0.800 1.000 1 2012 2012
dbSNP: rs10165899
rs10165899
1.000 0.040 2 75656150 3 prime UTR variant C/T snv 0.21
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs1049678
rs1049678
1.000 0.040 2 75655530 3 prime UTR variant G/A snv 0.23
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs13385913
rs13385913
1.000 0.040 2 75672606 intron variant C/T snv 0.24
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs17689863
rs17689863
1.000 0.040 2 75655273 synonymous variant G/A;T snv 0.24; 4.0E-06
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs17690224
rs17690224
1.000 0.040 2 75664985 intron variant T/C snv 0.19
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs1986238
rs1986238
1.000 0.040 2 75672737 intron variant T/A;C;G snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs2024034
rs2024034
1.000 0.040 2 75679498 intron variant C/T snv 0.77
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs3213670
rs3213670
1.000 0.040 2 75665711 intron variant T/C snv 0.10
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs3732304
rs3732304
1.000 0.040 2 75655729 3 prime UTR variant A/C;G;T snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs3771878
rs3771878
1.000 0.040 2 75674542 intron variant A/G snv 0.85
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs4853169
rs4853169
1.000 0.040 2 75679846 3 prime UTR variant G/A;C snv 0.19
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs6759555
rs6759555
1.000 0.040 2 75654702 intron variant T/C snv 0.44 0.51
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
Neoplasms 0.700 1.000 1 2017 2017