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: 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
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: rs539544212
rs539544212
ELP1
1 1.000 0.080 9 108906486 splice acceptor variant C/A;T snv 8.0E-06 0.700 0
dbSNP: rs749052963
rs749052963
ELP1
1 1.000 0.080 9 108893986 stop gained G/T snv 4.0E-06 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: rs757972943
rs757972943
ELP1
1 1.000 0.080 9 108927455 splice acceptor variant T/C;G snv 2.0E-05; 4.0E-06 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: rs760774999
rs760774999
ELP1
1 1.000 0.080 9 108881704 splice donor variant C/T snv 4.0E-06 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: rs765572951
rs765572951
ELP1
1 1.000 0.080 9 108922841 splice donor variant C/A snv 8.0E-06 0.700 0
dbSNP: rs767527819
rs767527819
ELP1
1 1.000 0.080 9 108897149 frameshift variant -/A delins 2.0E-05 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: rs774890086
rs774890086
ELP1
1 1.000 0.080 9 108912299 frameshift variant G/- del 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: rs866046915
rs866046915
ELP1
1 1.000 0.080 9 108906487 splice acceptor variant T/C snv 1.4E-05 0.700 0
dbSNP: rs868073099
rs868073099
ELP1
1 1.000 0.080 9 108931068 stop gained G/A;C snv 0.700 0
dbSNP: rs926177767
rs926177767
ELP1
1 1.000 0.080 9 108931143 stop gained G/A;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
8 0.807 0.160 X 101401752 missense variant C/G;T snv 5.5E-04 0.010 1.000 1 2015 2015