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: rs6008777
rs6008777
CELSR1
1 1.000 22 46364140 missense variant G/A snv 5.9E-03 2.6E-02 0.700 0
dbSNP: rs775571796
rs775571796
VANGL1
1 1.000 1 115685423 missense variant G/T snv 1.2E-05 0.700 0
dbSNP: rs786201015
rs786201015
CELSR1
1 1.000 22 46409760 frameshift variant -/CA delins 1.2E-05 0.700 0
dbSNP: rs786201016
rs786201016
CELSR1
1 1.000 22 46396724 frameshift variant CA/- delins 0.700 0
dbSNP: rs786204030
rs786204030
MTHFR
3 0.882 0.080 1 11791276 stop gained C/T snv 0.700 0