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: rs367543286
rs367543286
0.851 0.080 5 150125571 missense variant G/A snv 7.0E-06
CUI: C0432284
Disease: Infantile myofibromatosis
Infantile myofibromatosis
Neoplasms 0.730 1.000 4 2013 2018
dbSNP: rs864309711
rs864309711
0.827 0.120 5 150124275 missense variant G/C;T snv
CUI: C0432284
Disease: Infantile myofibromatosis
Infantile myofibromatosis
Neoplasms 0.720 1.000 3 2016 2019
dbSNP: rs1060499540
rs1060499540
1.000 0.040 5 150120925 missense variant T/A;C snv
CUI: C0432284
Disease: Infantile myofibromatosis
Infantile myofibromatosis
Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs1060499541
rs1060499541
1.000 0.040 5 150126578 inframe insertion -/ATC ins
CUI: C0432284
Disease: Infantile myofibromatosis
Infantile myofibromatosis
Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs1060499542
rs1060499542
0.827 0.120 5 150125556 missense variant A/G snv
CUI: C0432284
Disease: Infantile myofibromatosis
Infantile myofibromatosis
Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs1060499543
rs1060499543
1.000 0.040 5 150125550 inframe deletion CCTTCC/- del
CUI: C0432284
Disease: Infantile myofibromatosis
Infantile myofibromatosis
Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs144050370
rs144050370
0.851 0.080 5 150124295 missense variant G/T snv 1.2E-05 1.4E-05
CUI: C0432284
Disease: Infantile myofibromatosis
Infantile myofibromatosis
Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs1554108211
rs1554108211
0.882 0.160 5 150124279 missense variant A/G snv
CUI: C0432284
Disease: Infantile myofibromatosis
Infantile myofibromatosis
Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs797044887
rs797044887
0.925 0.040 5 150124277 missense variant T/G snv
CUI: C0432284
Disease: Infantile myofibromatosis
Infantile myofibromatosis
Neoplasms 0.010 1.000 1 2019 2019