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: rs10040865
rs10040865
NPM1
5 171411280 downstream gene variant G/A snv 0.40
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs1057519744
rs1057519744
NPM1
1.000 0.040 5 171410542 frameshift variant -/CATG;CCTG;TCAG;TCTG ins
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 1.000 1 2009 2009
dbSNP: rs78276384
rs78276384
NPM1 ; MIR3912
5 171388517 intron variant C/T snv 0.11
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2017 2017
dbSNP: rs1554138188
rs1554138188
NPM1
1.000 0.040 5 171410541 frameshift variant -/CATG;CGTG delins
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 0
dbSNP: rs1554138189
rs1554138189
NPM1
1.000 0.040 5 171410540 frameshift variant -/CCTG delins
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 0
dbSNP: rs1561878500
rs1561878500
NPM1
1.000 0.040 5 171410549 frameshift variant GGAGGAA/CCCTGGCTAGG delins
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 0
dbSNP: rs587776806
rs587776806
NPM1
1.000 0.040 5 171410539 frameshift variant -/TCTG delins
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 0