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: rs41274458
rs41274458
KIF1B
4 0.851 0.080 1 10303606 missense variant G/T snv 1.8E-02 1.9E-02 0.010 1.000 1 2003 2003
dbSNP: rs1561927
rs1561927
LINC00824
6 0.807 0.280 8 128555832 intron variant C/T snv 0.65 0.010 1.000 1 2019 2019
dbSNP: rs1200941109
rs1200941109
MYCN ; MYCNOS
4 0.882 0.040 2 15940679 frameshift variant C/-;CC delins 0.010 1.000 1 2013 2013
dbSNP: rs922324159
rs922324159
MYCN ; MYCNOS
5 0.827 0.040 2 15941962 5 prime UTR variant G/A snv 2.4E-04 0.010 1.000 1 2012 2012
dbSNP: rs757066045
rs757066045
CDKN2A
4 0.882 0.040 9 21974725 missense variant C/T snv 8.2E-06 0.010 1.000 1 2013 2013
dbSNP: rs4759314
rs4759314
HOTAIR
31 0.649 0.440 12 53968051 non coding transcript exon variant G/A snv 0.93 0.010 1.000 1 2019 2019