rs137853137, CRB1

N. diseases: 4
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 8
CUI: C3151202
Disease: LEBER CONGENITAL AMAUROSIS 8
42 0.882 0.080 1 197427726 stop gained A/T snv 5.2E-05 1.3E-04 0.700 1.000 4 2001 2013
RETINITIS PIGMENTOSA 12 (disorder)
CUI: C1838647
Disease: RETINITIS PIGMENTOSA 12 (disorder)
38 0.882 0.080 1 197427726 stop gained A/T snv 5.2E-05 1.3E-04 0.700 1.000 4 2001 2013
Retinal Dystrophies
CUI: C0854723
Disease: Retinal Dystrophies
227 0.882 0.080 1 197427726 stop gained A/T snv 5.2E-05 1.3E-04 0.700 1.000 1 2019 2019
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
541 0.882 0.080 1 197427726 stop gained A/T snv 5.2E-05 1.3E-04 0.700 1.000 1 2019 2019