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: rs746242380
rs746242380
CCDC103 ; FAM187A
4 1.000 0.080 17 44902646 frameshift variant AGAG/-;AG;AGAGAG delins 1.6E-05 2.8E-05 0.700 0
dbSNP: rs777516785
rs777516785
USP11
5 0.882 0.120 X 47242504 synonymous variant G/A snv 1.1E-05 0.700 0