Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs774152851
rs774152851
1.000 14 21394188 frameshift variant G/-;GG delins
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.700 1.000 12 2008 2017
dbSNP: rs1566446604
rs1566446604
0.882 0.080 14 21431511 frameshift variant GAGAGCTTGGCAGTCCA/- delins
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.700 1.000 4 2012 2016