Gene: SELP ×
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: rs6136
rs6136
SELP
17 0.752 0.440 1 169594713 missense variant T/G snv 8.2E-02 7.5E-02 0.700 1.000 3 2018 2018
dbSNP: rs2205895
rs2205895
SELP
1 1 169603407 intron variant C/T snv 0.39 0.700 1.000 1 2018 2018
dbSNP: rs2223303
rs2223303
SELP
1 1 169605649 intron variant C/T snv 0.32 0.700 1.000 1 2018 2018
dbSNP: rs3917775
rs3917775
SELP
1 1 169601838 intron variant T/C snv 0.42 0.700 1.000 1 2018 2018
dbSNP: rs6128
rs6128
SELP
5 0.851 0.360 1 169593666 synonymous variant C/A;T snv 2.8E-05; 0.24 0.700 1.000 1 2018 2018