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: rs200691042
rs200691042
FAM161A
0.851 0.080 2 61839695 stop gained T/A snv 2.8E-04 2.9E-04
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.700 1.000 1 2019 2019
dbSNP: rs202193201
rs202193201
FAM161A
0.925 0.080 2 61839437 stop gained G/A;C;T snv 4.8E-05; 1.8E-04
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.700 1.000 1 2019 2019
dbSNP: rs761440783
rs761440783
FAM161A
2 61839540 stop gained C/A;T snv 8.0E-06; 1.2E-05
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.700 0