Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1554692181
rs1554692181
ELP1
1 1.000 0.080 9 108882123 splice donor variant A/G snv 0.700 1.000 1 2001 2001
dbSNP: rs1564084140
rs1564084140
ELP1
1 1.000 0.080 9 108897035 stop gained G/T snv 0.700 1.000 1 2001 2001
dbSNP: rs1057516865
rs1057516865
ELP1
1 1.000 0.080 9 108899868 frameshift variant G/- del 0.700 0
dbSNP: rs1057517169
rs1057517169
ELP1
1 1.000 0.080 9 108899821 splice donor variant C/T snv 0.700 0
dbSNP: rs1201626345
rs1201626345
ELP1
1 1.000 0.080 9 108911009 splice donor variant C/A;G snv 0.700 0
dbSNP: rs1239081703
rs1239081703
ELP1
1 1.000 0.080 9 108892985 splice donor variant C/G;T snv 7.0E-06 0.700 0
dbSNP: rs1554691572
rs1554691572
ELP1
1 1.000 0.080 9 108878150 splice acceptor variant C/T snv 0.700 0
dbSNP: rs1554695299
rs1554695299
ELP1
1 1.000 0.080 9 108896951 splice donor variant A/C snv 0.700 0
dbSNP: rs1554695846
rs1554695846
ELP1
1 1.000 0.080 9 108898750 splice acceptor variant C/G snv 0.700 0
dbSNP: rs1554696574
rs1554696574
ELP1
1 1.000 0.080 9 108901424 splice donor variant C/T snv 0.700 0
dbSNP: rs1554696648
rs1554696648
ELP1
1 1.000 0.080 9 108901626 splice donor variant A/T snv 0.700 0
dbSNP: rs1554696650
rs1554696650
ELP1
1 1.000 0.080 9 108901633 frameshift variant GT/- delins 0.700 0
dbSNP: rs1554696934
rs1554696934
ELP1
1 1.000 0.080 9 108902838 splice donor variant C/T snv 0.700 0
dbSNP: rs1554697001
rs1554697001
ELP1
1 1.000 0.080 9 108902944 splice acceptor variant T/A snv 0.700 0
dbSNP: rs1554698037
rs1554698037
ELP1
1 1.000 0.080 9 108906476 frameshift variant AA/- delins 0.700 0
dbSNP: rs1554699327
rs1554699327
ELP1
1 1.000 0.080 9 108912263 splice donor variant C/T snv 0.700 0
dbSNP: rs1554702142
rs1554702142
ELP1
1 1.000 0.080 9 108922840 splice donor variant A/T snv 0.700 0
dbSNP: rs1554702880
rs1554702880
ELP1
1 1.000 0.080 9 108926605 splice acceptor variant T/G snv 0.700 0
dbSNP: rs1554703061
rs1554703061
ELP1
1 1.000 0.080 9 108927371 splice donor variant C/T snv 0.700 0
dbSNP: rs1554703613
rs1554703613
ELP1
1 1.000 0.080 9 108929922 splice acceptor variant C/A;T snv 0.700 0
dbSNP: rs1554703831
rs1554703831
ELP1
1 1.000 0.080 9 108930996 splice donor variant C/T snv 0.700 0
dbSNP: rs1554703851
rs1554703851
ELP1
1 1.000 0.080 9 108931050 frameshift variant C/- delins 0.700 0
dbSNP: rs1554703874
rs1554703874
ELP1
1 1.000 0.080 9 108931093 frameshift variant T/- del 0.700 0
dbSNP: rs1554703907
rs1554703907
ELP1
1 1.000 0.080 9 108931146 start lost T/A snv 0.700 0
dbSNP: rs28939712
rs28939712
ELP1
1 1.000 0.080 9 108894062 missense variant G/A snv 0.700 0