Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1114167327
DES
1.000 0.040 2 219425706 frameshift variant ACGG/- delins 1
rs1114167332
DES
1.000 0.040 2 219418955 protein altering variant CAGGTGGAGGTGCTCACTAACCAGCGCG/GCGT delins 1
rs397516695
DES
0.882 0.040 2 219418869 missense variant T/A;C snv 5.5E-05 1