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: rs3173798
rs3173798
2 0.925 0.040 7 80656534 splice region variant T/C snv 0.14 0.13 0.010 1.000 1 2012 2012
dbSNP: rs3173800
rs3173800
2 0.925 0.040 7 80660605 intron variant A/T snv 0.29 0.010 1.000 1 2012 2012