Source: CURATED

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: rs1009298200
rs1009298200
ALG1
0.742 0.400 16 5079077 missense variant C/G;T snv 7.0E-06
CUI: C0039231
Disease: Tachycardia
Tachycardia 		0.700 0
dbSNP: rs1276519904
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv
CUI: C0039231
Disease: Tachycardia
Tachycardia 		0.700 0
dbSNP: rs1307997067
rs1307997067
TAX1BP3 ; P2RX5-TAX1BP3
0.851 0.320 17 3664199 missense variant A/C;G snv 4.0E-06 7.0E-06
CUI: C0039231
Disease: Tachycardia
Tachycardia 		0.700 0
dbSNP: rs1553621496
rs1553621496
UNC80
0.677 0.440 2 209976305 splice donor variant T/G snv
CUI: C0039231
Disease: Tachycardia
Tachycardia 		0.700 0
dbSNP: rs1555206402
rs1555206402
HMBS
0.790 0.320 11 119093274 stop lost GCCCATTAACTGGTTTGTGGGGCACAGATGCCTGGGTTGCTGCTGTCCAGTGCCT/- delins
CUI: C0039231
Disease: Tachycardia
Tachycardia 		0.700 0
dbSNP: rs1555452127
rs1555452127
ALG1
0.742 0.400 16 5079078 missense variant T/C snv
CUI: C0039231
Disease: Tachycardia
Tachycardia 		0.700 0
dbSNP: rs369160589
rs369160589
ALG1
0.742 0.400 16 5082676 splice region variant A/G snv 1.0E-04 1.3E-04
CUI: C0039231
Disease: Tachycardia
Tachycardia 		0.700 0
dbSNP: rs587782958
rs587782958
MYBPC3
0.790 0.120 11 47333552 splice region variant C/T snv 1.7E-05
CUI: C0039231
Disease: Tachycardia
Tachycardia 		0.700 0