Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057910
rs1057910
0.776 0.280 10 94981296 missense variant A/C;G snv 6.3E-02; 4.0E-06
CUI: C0278134
Disease: Absence of sensation
Absence of sensation
0.010 1.000 1 2017 2017
dbSNP: rs3745274
rs3745274
0.672 0.480 19 41006936 missense variant G/A;T snv 4.0E-06; 0.27
CUI: C0278134
Disease: Absence of sensation
Absence of sensation
0.010 1.000 1 2017 2017
dbSNP: rs3758987
rs3758987
0.925 0.080 11 113904553 upstream gene variant T/C snv 0.32
CUI: C0278134
Disease: Absence of sensation
Absence of sensation
0.010 1.000 1 2013 2013
dbSNP: rs72551330
rs72551330
2 233672032 missense variant T/A;C snv 4.0E-06; 9.7E-03
CUI: C0278134
Disease: Absence of sensation
Absence of sensation
0.010 1.000 1 2017 2017
dbSNP: rs949431436
rs949431436
10 94938780 missense variant C/T snv 7.0E-06
CUI: C0278134
Disease: Absence of sensation
Absence of sensation
0.010 1.000 1 2017 2017