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: rs121918563
rs121918563
PRPH2
6 0.827 0.120 6 42721781 missense variant A/G snv 8.0E-06 1.4E-05 0.700 0
dbSNP: rs1387102485
rs1387102485
ROM1 ; EML3
1 1.000 0.080 11 62613517 frameshift variant -/G delins 1.2E-05 0.700 0