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: rs387907358
rs387907358
1 1.000 12 48981590 missense variant G/T snv 0.800 0
dbSNP: rs1555178899
rs1555178899
4 0.925 12 48978757 splice region variant AGTGAGCTGGTGCGGGGTCGCCACTTGTCCCGCGGCACAGA/- delins 0.700 0
dbSNP: rs387907353
rs387907353
2 1.000 12 48981380 splice acceptor variant -/C delins 0.700 0
dbSNP: rs387907354
rs387907354
1 1.000 12 48980693 splice region variant A/G snv 0.700 0
dbSNP: rs387907355
rs387907355
1 1.000 12 48980630 stop gained G/A;T snv 0.700 0
dbSNP: rs387907356
rs387907356
1 1.000 12 48981411 stop gained C/A snv 0.700 0
dbSNP: rs387907357
rs387907357
1 1.000 12 48981472 frameshift variant -/AACA delins 0.700 0