Source: CURATED ×
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: rs767713084
rs767713084
ELP2
1 1.000 18 36156574 missense variant C/T snv 2.8E-05 2.1E-05 0.800 0
dbSNP: rs773432002
rs773432002
ELP2
1 1.000 18 36142309 missense variant A/G snv 4.0E-06 7.0E-06 0.800 0
dbSNP: rs371310428
rs371310428
ELP2
1 1.000 18 36156575 missense variant G/A;T snv 1.6E-05 0.700 0
dbSNP: rs772450541
rs772450541
ELP2
1 1.000 18 36159990 missense variant A/C;G snv 0.700 0