rs267607077, SNRNP200

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.
RETINITIS PIGMENTOSA 33 (disorder)
CUI: C1835895
Disease: RETINITIS PIGMENTOSA 33 (disorder)
8 0.882 0.080 2 96287968 missense variant G/A snv 4.0E-06 0.800 1.000 8 2006 2013
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
541 0.882 0.080 2 96287968 missense variant G/A snv 4.0E-06 0.720 1.000 2 2009 2014
Autosomal dominant retinitis pigmentosa
CUI: C0339525
Disease: Autosomal dominant retinitis pigmentosa
65 0.882 0.080 2 96287968 missense variant G/A snv 4.0E-06 0.010 1.000 1 2011 2011
Photophobia
CUI: C0085636
Disease: Photophobia
7 0.882 0.080 2 96287968 missense variant G/A snv 4.0E-06 0.010 1.000 1 2019 2019