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: rs200895692
rs200895692
2 1 42956286 intron variant GCCTGTAATCCCAG/- delins 0.700 1.000 1 2016 2016