Gene: NR2E3 ×
Source: CLINVAR ×
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: rs574936510
rs574936510
NR2E3
1 1.000 0.040 15 71817619 frameshift variant TTT/-;T;TT delins 4.0E-06 0.700 0