Source: ALL

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: rs374772670
rs374772670
FTH1 ; BEST1
0.882 0.160 11 61962313 missense variant G/A snv 8.0E-06 2.8E-05
CUI: C3888198
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		0.010 1.000 1 2019 2019
dbSNP: rs374772670
rs374772670
FTH1 ; BEST1
0.882 0.160 11 61962313 missense variant G/A snv 8.0E-06 2.8E-05
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy 		0.010 1.000 1 2019 2019
dbSNP: rs374772670
rs374772670
FTH1 ; BEST1
0.882 0.160 11 61962313 missense variant G/A snv 8.0E-06 2.8E-05
CUI: C0029458
Disease: Osteoporosis, Postmenopausal
Osteoporosis, Postmenopausal 		0.010 1.000 1 2015 2015