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: rs886042805
rs886042805
TTC7A
5 0.827 0.080 2 46950464 stop gained G/T snv 0.700 1.000 1 2016 2016
dbSNP: rs886042806
rs886042806
TTC7A
5 0.827 0.080 2 47006038 frameshift variant -/C delins 0.700 1.000 1 2016 2016