Gene: ELP1 ×
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: rs111033171
rs111033171
ELP1
1 1.000 0.080 9 108899816 splice region variant A/G snv 6.5E-04 5.0E-04 0.700 1.000 8 1998 2016
dbSNP: rs143674809
rs143674809
ELP1
1 1.000 0.080 9 108874894 splice donor variant C/A;T snv 4.8E-05 1.2E-04 0.700 0
dbSNP: rs376078668
rs376078668
ELP1
1 1.000 0.080 9 108878731 stop gained G/A snv 1.6E-05 3.5E-05 0.700 0
dbSNP: rs759412460
rs759412460
ELP1
1 1.000 0.080 9 108919261 frameshift variant G/-;GG delins 1.4E-05 0.700 0
dbSNP: rs866046915
rs866046915
ELP1
1 1.000 0.080 9 108906487 splice acceptor variant T/C snv 1.4E-05 0.700 0
dbSNP: rs754348901
rs754348901
ELP1
1 1.000 0.080 9 108893941 splice donor variant A/G snv 4.0E-06 7.0E-06 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: rs137853022
rs137853022
ELP1
1 1.000 0.080 9 108900303 missense variant C/G;T snv 9.9E-05 0.800 1.000 3 2001 2002
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: rs1319053366
rs1319053366
ELP1
1 1.000 0.080 9 108930995 coding sequence variant -/CTCTT delins 4.0E-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