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: rs1554580083
rs1554580083
KMT2C
1 1.000 7 152250898 stop gained T/A snv 0.700 1.000 1 2017 2017
dbSNP: rs587777073
rs587777073
KMT2C
1 1.000 7 152194506 stop gained G/A snv 0.700 1.000 1 2012 2012
dbSNP: rs779659766
rs779659766
KMT2C
1 1.000 7 152177903 stop gained G/A;C snv 4.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs1554477105
rs1554477105
KMT2C
1 1.000 7 152162762 frameshift variant CTTT/- delins 0.700 0
dbSNP: rs1554496813
rs1554496813
KMT2C
8 0.827 0.160 7 152177839 frameshift variant -/G delins 0.700 0
dbSNP: rs1554505381
rs1554505381
KMT2C
1 1.000 7 152183023 frameshift variant G/- delins 0.700 0