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: rs767527819
rs767527819
ELP1
1 1.000 0.080 9 108897149 frameshift variant -/A delins 2.0E-05 0.700 0
dbSNP: rs763445509
rs763445509
ELP1
1 1.000 0.080 9 108900313 frameshift variant -/C delins 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs781333644
rs781333644
ELP1
1 1.000 0.080 9 108878679 frameshift variant -/C delins 4.0E-06 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: rs1554695299
rs1554695299
ELP1
1 1.000 0.080 9 108896951 splice donor variant A/C snv 0.700 0
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: rs1554692181
rs1554692181
ELP1
1 1.000 0.080 9 108882123 splice donor variant A/G snv 0.700 1.000 1 2001 2001
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: rs1554696648
rs1554696648
ELP1
1 1.000 0.080 9 108901626 splice donor variant A/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: rs1554698037
rs1554698037
ELP1
1 1.000 0.080 9 108906476 frameshift variant AA/- delins 0.700 0
dbSNP: rs1554703851
rs1554703851
ELP1
1 1.000 0.080 9 108931050 frameshift variant C/- delins 0.700 0
dbSNP: rs765572951
rs765572951
ELP1
1 1.000 0.080 9 108922841 splice donor variant C/A snv 8.0E-06 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: 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: rs1554703613
rs1554703613
ELP1
1 1.000 0.080 9 108929922 splice acceptor variant C/A;T snv 0.700 0
dbSNP: rs539544212
rs539544212
ELP1
1 1.000 0.080 9 108906486 splice acceptor variant C/A;T snv 8.0E-06 0.700 0
dbSNP: rs770668926
rs770668926
ELP1
1 1.000 0.080 9 108903562 splice donor variant C/A;T 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: 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: rs1239081703
rs1239081703
ELP1
1 1.000 0.080 9 108892985 splice donor variant C/G;T snv 7.0E-06 0.700 0
dbSNP: rs1057517169
rs1057517169
ELP1
1 1.000 0.080 9 108899821 splice donor variant C/T snv 0.700 0
dbSNP: rs1554691572
rs1554691572
ELP1
1 1.000 0.080 9 108878150 splice acceptor variant C/T 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: rs1554696934
rs1554696934
ELP1
1 1.000 0.080 9 108902838 splice donor variant C/T snv 0.700 0