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: rs886039810
rs886039810
TMEM67
0.851 0.480 8 93809830 missense variant G/C snv
CUI: C3887873
Disease: Hearing Loss
Hearing Loss 		0.700 0
dbSNP: rs886039810
rs886039810
TMEM67
0.851 0.480 8 93809830 missense variant G/C snv
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 0
dbSNP: rs886039810
rs886039810
TMEM67
0.851 0.480 8 93809830 missense variant G/C snv
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis 		0.700 0
dbSNP: rs886039810
rs886039810
TMEM67
0.851 0.480 8 93809830 missense variant G/C snv
CUI: C0220726
Disease: Diastrophic dysplasia
Diastrophic dysplasia 		0.700 0
dbSNP: rs886039810
rs886039810
TMEM67
0.851 0.480 8 93809830 missense variant G/C snv
CUI: C0796074
Disease: MOHR-TRANEBJAERG SYNDROME
MOHR-TRANEBJAERG SYNDROME 		0.700 0