Source: UNIPROT

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: rs121909084
rs121909084
1.000 0.120 9 91737463 missense variant G/A snv 4.0E-06
Robinow syndrome, autosomal recessive
0.800 1.000 2 2000 2000
dbSNP: rs140213020
rs140213020
1.000 0.080 9 91724870 missense variant C/A;T snv 8.2E-06; 2.0E-05
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine
0.700 0
dbSNP: rs199975149
rs199975149
1.000 0.120 9 91737448 missense variant G/A snv 8.0E-06 2.1E-05
Robinow syndrome, autosomal recessive
0.700 0