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: rs1555631390
rs1555631390
TTR
0.851 0.160 18 31595128 inframe insertion -/AGTCTG delins
CUI: C0013363
Disease: Dysautonomia
Dysautonomia 		0.700 1.000 1 2018 2018
dbSNP: rs1555631390
rs1555631390
TTR
0.851 0.160 18 31595128 inframe insertion -/AGTCTG delins
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		0.700 1.000 1 2018 2018
dbSNP: rs1555631390
rs1555631390
TTR
0.851 0.160 18 31595128 inframe insertion -/AGTCTG delins
CUI: C1112256
Disease: Sensorimotor neuropathy
Sensorimotor neuropathy 		0.700 1.000 1 2018 2018
dbSNP: rs1555631390
rs1555631390
TTR
0.851 0.160 18 31595128 inframe insertion -/AGTCTG delins
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		0.700 1.000 1 2018 2018