rs886039810, TMEM67

N. diseases: 5
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.
Diastrophic dysplasia
CUI: C0220726
Disease: Diastrophic dysplasia
63 0.851 0.480 8 93809830 missense variant G/C snv 0.700 0
Familial aplasia of the vermis
CUI: C0431399
Disease: Familial aplasia of the vermis
187 0.851 0.480 8 93809830 missense variant G/C snv 0.700 0
Hearing Loss
CUI: C3887873
Disease: Hearing Loss
61 0.851 0.480 8 93809830 missense variant G/C snv 0.700 0
Keratosis Follicularis
CUI: C0022595
Disease: Keratosis Follicularis
21 0.851 0.480 8 93809830 missense variant G/C snv 0.700 0
MOHR-TRANEBJAERG SYNDROME
CUI: C0796074
Disease: MOHR-TRANEBJAERG SYNDROME
19 0.851 0.480 8 93809830 missense variant G/C snv 0.700 0