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: rs774912957
rs774912957
THAP8 ; WDR62
2 0.925 0.200 19 36054999 missense variant G/C;T snv 7.3E-05 0.010 1.000 1 2016 2016
dbSNP: rs775277800
rs775277800
RTTN
4 0.851 0.120 18 70166989 missense variant C/G;T snv 4.0E-06 0.010 1.000 1 2017 2017