rs75895925, SPATA7

N. diseases: 2
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.
Leber Congenital Amaurosis
CUI: C0339527
Disease: Leber Congenital Amaurosis
109 0.925 0.080 14 88437565 stop gained C/T snv 4.8E-05 7.0E-06 0.700 0
LEBER CONGENITAL AMAUROSIS 3 (disorder)
CUI: C1858677
Disease: LEBER CONGENITAL AMAUROSIS 3 (disorder)
6 0.925 0.080 14 88437565 stop gained C/T snv 4.8E-05 7.0E-06 0.700 0