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: rs7207701
rs7207701
LOC101928475
1 17 15052017 non coding transcript exon variant C/T snv 0.26 0.700 1.000 1 2018 2018
dbSNP: rs1554317002
rs1554317002
CDK13 ; LOC112267983
45 0.724 0.440 7 39950821 frameshift variant C/- delins 0.700 0
dbSNP: rs1557607997
rs1557607997
MMACHC
4 0.925 0.160 1 45508296 frameshift variant -/C delins 0.700 0