Source: CLINVAR

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: rs864309486
rs864309486
GMNN
0.763 0.320 6 24777262 stop gained A/T snv
CUI: C0019322
Disease: Umbilical hernia
Umbilical hernia 		0.700 1.000 1 2015 2015