Gene: NOTCH1 ×
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: rs3124594
rs3124594
NOTCH1
3 0.882 0.080 9 136501956 intron variant A/G snv 0.59 0.62 0.010 < 0.001 1 2017 2017
dbSNP: rs3124599
rs3124599
NOTCH1
5 0.851 0.080 9 136509318 intron variant G/A snv 0.13 0.010 < 0.001 1 2017 2017
dbSNP: rs3124607
rs3124607
NOTCH1 ; MIR4673
3 0.882 0.080 9 136520387 intron variant G/A;C snv 0.010 < 0.001 1 2017 2017