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: rs572115942
rs572115942
PHKG2
7 0.925 0.240 16 30756714 missense variant G/A snv 8.0E-05 7.7E-05 0.700 0
dbSNP: rs104893755
rs104893755
POU1F1
5 0.851 0.200 3 87259959 missense variant G/A snv 0.010 1.000 1 2003 2003
dbSNP: rs1218653273
rs1218653273
STAT5A
3 0.925 0.160 17 42292005 missense variant C/T snv 4.0E-06 0.010 < 0.001 1 2007 2007
dbSNP: rs1253103806
rs1253103806
IGF1R
3 1.000 0.040 15 98891384 missense variant G/A snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs137853220
rs137853220
CSHL1 ; GH1 ; LOC112268204
4 0.882 0.200 17 63917909 missense variant G/A snv 4.0E-06 0.010 < 0.001 1 2007 2007
dbSNP: rs557914261
rs557914261
BLVRB
3 0.925 0.160 19 40458393 missense variant G/A snv 2.8E-05 0.010 < 0.001 1 2007 2007
dbSNP: rs6190
rs6190
NR3C1
6 0.827 0.120 5 143400772 missense variant C/G;T snv 4.0E-06; 1.8E-02 0.010 1.000 1 2007 2007