Gene: DES ×
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: rs1114167327
rs1114167327
DES
1 1.000 0.040 2 219425706 frameshift variant ACGG/- delins 0.700 0
dbSNP: rs1114167332
rs1114167332
DES
1 1.000 0.040 2 219418955 protein altering variant CAGGTGGAGGTGCTCACTAACCAGCGCG/GCGT delins 0.700 0
dbSNP: rs397516695
rs397516695
DES
4 0.882 0.040 2 219418869 missense variant T/A;C snv 5.5E-05 0.700 0