Source: BEFREE ×
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: rs111033618
rs111033618
IL2RG
4 0.925 0.120 X 71109321 missense variant G/A snv 0.810 1.000 1 1995 2018
dbSNP: rs1057521062
rs1057521062
IL2RG
1 X 71110283 missense variant G/A snv 0.710 1.000 1 1999 1999
dbSNP: rs1450116153
rs1450116153
GHR
2 1.000 0.120 5 42711220 missense variant T/C snv 8.0E-06 7.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs574416200
rs574416200
SOAT1
2 1 179341194 missense variant T/C snv 0.010 1.000 1 2018 2018