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: rs1345176461
rs1345176461
IRF2BPL ; LOC107984638
0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06
CUI: C0009806
Disease: Constipation
Constipation 		0.700 0
dbSNP: rs1448259271
rs1448259271
IRF2BPL ; LOC107984638
0.790 0.240 14 77027279 stop gained C/A;T snv
CUI: C0009806
Disease: Constipation
Constipation 		0.700 0
dbSNP: rs1566785990
rs1566785990
IRF2BPL ; LOC107984638
0.851 0.120 14 77026534 missense variant A/G snv
CUI: C0009806
Disease: Constipation
Constipation 		0.700 0