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: rs1567518954
rs1567518954 		1.000 0.120 16 86072089 regulatory region variant -/TGTCGCCACTGCTATGATTAAAGCTGGGGAAGCTGGACTT delins
CUI: C0221210
Disease: Congenital malrotation of intestine
Congenital malrotation of intestine 		0.700 0