CLRN1, clarin 1, 7401

N. diseases: 77; N. variants: 26
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs374390376
rs374390376
1.000 3 150972617 missense variant G/A;C snv 1.2E-05
CUI: C3280041
Disease: RETINITIS PIGMENTOSA 61
RETINITIS PIGMENTOSA 61
0.800 1.000 1 2011 2011
dbSNP: rs775098953
rs775098953
0.925 0.200 3 150928174 missense variant A/C snv 4.0E-06
CUI: C3280041
Disease: RETINITIS PIGMENTOSA 61
RETINITIS PIGMENTOSA 61
0.800 0