rs886039804, TMEM138

N. diseases: 4
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 0.882 0.120 11 61366050 missense variant A/G snv 0.700 0
Meckel-Gruber syndrome
CUI: C0265215
Disease: Meckel-Gruber syndrome
105 0.882 0.120 11 61366050 missense variant A/G snv 0.700 0
Occipital Encephalocele
CUI: C0014067
Disease: Occipital Encephalocele
9 0.882 0.120 11 61366050 missense variant A/G snv 0.700 0
Polycystic Kidney Diseases
CUI: C0022680
Disease: Polycystic Kidney Diseases
54 0.882 0.120 11 61366050 missense variant A/G snv 0.700 0