PMF1-BGLAP, PMF1-BGLAP readthrough, 100527963

N. diseases: 9; N. variants: 33
Disease: Cerebral Hemorrhage ×
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: rs2984613
rs2984613 		1 156227589 intron variant C/T snv 0.32
CUI: C2937358
Disease: Cerebral Hemorrhage
Cerebral Hemorrhage 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases 0.800 1.000 1 2014 2014
dbSNP: rs1052053
rs1052053 		1.000 0.080 1 156232382 missense variant A/C;G snv 1.0E-03; 0.38
CUI: C2937358
Disease: Cerebral Hemorrhage
Cerebral Hemorrhage 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 1 2014 2014
dbSNP: rs1060604
rs1060604 		1 156214477 intron variant T/C snv 0.30
CUI: C2937358
Disease: Cerebral Hemorrhage
Cerebral Hemorrhage 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 1 2014 2014
dbSNP: rs1137703
rs1137703 		1 156214667 intron variant T/A;C snv
CUI: C2937358
Disease: Cerebral Hemorrhage
Cerebral Hemorrhage 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 1 2014 2014
dbSNP: rs2241107
rs2241107 		1.000 0.040 1 156212919 upstream gene variant T/C;G snv
CUI: C2937358
Disease: Cerebral Hemorrhage
Cerebral Hemorrhage 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 1 2014 2014
dbSNP: rs2241108
rs2241108 		1 156211216 3 prime UTR variant C/G snv 0.43
CUI: C2937358
Disease: Cerebral Hemorrhage
Cerebral Hemorrhage 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 1 2014 2014
dbSNP: rs2244144
rs2244144 		1 156214807 intron variant G/A snv 0.30
CUI: C2937358
Disease: Cerebral Hemorrhage
Cerebral Hemorrhage 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 1 2014 2014
dbSNP: rs2248074
rs2248074 		1 156226097 intron variant C/A;T snv
CUI: C2937358
Disease: Cerebral Hemorrhage
Cerebral Hemorrhage 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 1 2014 2014
dbSNP: rs2251636
rs2251636 		1 156233018 intron variant G/C snv 0.41
CUI: C2937358
Disease: Cerebral Hemorrhage
Cerebral Hemorrhage 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 1 2014 2014
dbSNP: rs2251847
rs2251847 		1 156234256 intron variant G/A snv 0.38
CUI: C2937358
Disease: Cerebral Hemorrhage
Cerebral Hemorrhage 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 1 2014 2014
dbSNP: rs2540173
rs2540173 		1 156218423 intron variant A/G snv 0.43
CUI: C2937358
Disease: Cerebral Hemorrhage
Cerebral Hemorrhage 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 1 2014 2014
dbSNP: rs2540175
rs2540175 		1 156214956 intron variant T/C snv 0.43
CUI: C2937358
Disease: Cerebral Hemorrhage
Cerebral Hemorrhage 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 1 2014 2014
dbSNP: rs2736609
rs2736609 		1 156232849 intron variant C/T snv 0.34
CUI: C2937358
Disease: Cerebral Hemorrhage
Cerebral Hemorrhage 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 1 2014 2014
dbSNP: rs2736613
rs2736613 		1 156226225 intron variant T/C snv 0.35
CUI: C2937358
Disease: Cerebral Hemorrhage
Cerebral Hemorrhage 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 1 2014 2014
dbSNP: rs2758598
rs2758598 		1 156224548 intron variant G/A snv 0.30
CUI: C2937358
Disease: Cerebral Hemorrhage
Cerebral Hemorrhage 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 1 2014 2014
dbSNP: rs2758600
rs2758600 		1 156225414 intron variant C/T snv 0.30
CUI: C2937358
Disease: Cerebral Hemorrhage
Cerebral Hemorrhage 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 1 2014 2014
dbSNP: rs2758603
rs2758603 		1 156229203 intron variant T/C snv 0.37
CUI: C2937358
Disease: Cerebral Hemorrhage
Cerebral Hemorrhage 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 1 2014 2014
dbSNP: rs2758605
rs2758605 		1 156230654 intron variant G/C snv 0.37
CUI: C2937358
Disease: Cerebral Hemorrhage
Cerebral Hemorrhage 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 1 2014 2014
dbSNP: rs2758607
rs2758607 		1 156232968 intron variant G/A;T snv
CUI: C2937358
Disease: Cerebral Hemorrhage
Cerebral Hemorrhage 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 1 2014 2014
dbSNP: rs2758608
rs2758608 		1 156233069 intron variant A/G;T snv
CUI: C2937358
Disease: Cerebral Hemorrhage
Cerebral Hemorrhage 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 1 2014 2014
dbSNP: rs2758609
rs2758609 		1 156233077 intron variant G/A snv 0.34
CUI: C2937358
Disease: Cerebral Hemorrhage
Cerebral Hemorrhage 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 1 2014 2014
dbSNP: rs2842870
rs2842870 		1 156230880 intron variant T/A;C snv
CUI: C2937358
Disease: Cerebral Hemorrhage
Cerebral Hemorrhage 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 1 2014 2014
dbSNP: rs2842873
rs2842873 		1 156234862 intron variant C/G;T snv
CUI: C2937358
Disease: Cerebral Hemorrhage
Cerebral Hemorrhage 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 1 2014 2014
dbSNP: rs2853641
rs2853641 		1.000 0.040 1 156211979 3 prime UTR variant A/G snv 0.43
CUI: C2937358
Disease: Cerebral Hemorrhage
Cerebral Hemorrhage 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 1 2014 2014
dbSNP: rs2853643
rs2853643 		1 156215040 intron variant G/A snv 0.30
CUI: C2937358
Disease: Cerebral Hemorrhage
Cerebral Hemorrhage 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 1 2014 2014