Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs111033267
rs111033267
CLRN1 ; CLRN1-AS1
5 0.851 0.200 3 150972520 stop gained G/A;T snv 1.2E-05; 1.2E-05 0.010 1.000 1 2004 2004
dbSNP: rs121908143
rs121908143
CLRN1 ; CLRN1-AS1
6 0.827 0.200 3 150972591 missense variant A/C;G snv 8.0E-05; 4.0E-06 0.010 1.000 1 2004 2004