Source: CLINVAR

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: rs1558027212
rs1558027212
TMCO1
0.827 0.320 1 165728096 frameshift variant GC/- del
CUI: C1858033
Disease: Asymmetry of the thorax
Asymmetry of the thorax 		0.700 0
dbSNP: rs1563005360
rs1563005360
FLNC ; FLNC-AS1
0.807 0.120 7 128857103 splice acceptor variant ACCTCTGGCCCCCAGGTGTGTCATCAGAGTTCATCGTGAACACCCTGAATGCCGGCTCGGGGGCCTTGTCTGTCACCATTGATGGCCCCTC/GAGG delins
CUI: C1858033
Disease: Asymmetry of the thorax
Asymmetry of the thorax 		0.700 0
dbSNP: rs543860009
rs543860009
TTN ; TTN-AS1
0.742 0.320 2 178589003 stop gained G/A;T snv
CUI: C1858033
Disease: Asymmetry of the thorax
Asymmetry of the thorax 		0.700 0
dbSNP: rs878854378
rs878854378
TTN ; TTN-AS1
0.742 0.320 2 178533657 inframe deletion GTT/- delins
CUI: C1858033
Disease: Asymmetry of the thorax
Asymmetry of the thorax 		0.700 0