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: rs1064795559
rs1064795559
0.752 0.320 22 30946373 missense variant G/A snv
CUI: C0401149
Disease: Chronic constipation
Chronic constipation
0.700 0
dbSNP: rs1064795559
rs1064795559
0.752 0.320 22 30946373 missense variant G/A snv
CUI: C1849043
Disease: Soft, doughy skin
Soft, doughy skin
0.700 0
dbSNP: rs1064795559
rs1064795559
0.752 0.320 22 30946373 missense variant G/A snv
CUI: C3665983
Disease: Oral aversion
Oral aversion
0.700 0
dbSNP: rs1064795559
rs1064795559
0.752 0.320 22 30946373 missense variant G/A snv
CUI: C4022968
Disease: Abnormal hypothalamus physiology
Abnormal hypothalamus physiology
0.700 0