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: rs34344826
rs34344826
1 12 117040963 intron variant CTC/-;CTCCTC delins 0.700 1.000 1 2016 2016