Source: CURATED

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: rs137853040
rs137853040
ADAM9
1.000 8 39023177 stop gained C/T snv 1.2E-05
CUI: C1423873
Disease: CONE-ROD DYSTROPHY 9
CONE-ROD DYSTROPHY 9 		0.700 0
dbSNP: rs137853041
rs137853041
ADAM9
0.925 0.080 8 39017298 stop gained C/G;T snv 4.0E-06
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		0.700 0
dbSNP: rs137853041
rs137853041
ADAM9
0.925 0.080 8 39017298 stop gained C/G;T snv 4.0E-06
CUI: C1423873
Disease: CONE-ROD DYSTROPHY 9
CONE-ROD DYSTROPHY 9 		0.700 0
dbSNP: rs786205085
rs786205085
ADAM9
1.000 8 39026811 splice donor variant G/A snv 1.6E-05
CUI: C1423873
Disease: CONE-ROD DYSTROPHY 9
CONE-ROD DYSTROPHY 9 		0.700 0
dbSNP: rs786205086
rs786205086
ADAM9
0.925 0.080 8 39017211 splice region variant A/G snv
CUI: C1423873
Disease: CONE-ROD DYSTROPHY 9
CONE-ROD DYSTROPHY 9 		0.700 0
dbSNP: rs786205086
rs786205086
ADAM9
0.925 0.080 8 39017211 splice region variant A/G snv
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		0.700 0
dbSNP: rs786205151
rs786205151
ADAM9
1.000 8 39055575 splice acceptor variant A/G snv
CUI: C1423873
Disease: CONE-ROD DYSTROPHY 9
CONE-ROD DYSTROPHY 9 		0.700 0