Disease: Klinefelter Syndrome
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv 306
rs77375493
INSL6 ; JAK2
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 187
rs1800053
AR
0.851 0.160 X 67711453 missense variant C/A snv 1.1E-03 1.2E-03 4
rs1204919376
SRGN
0.882 0.160 10 69103945 missense variant G/C snv 4.0E-06 3
rs139767835
AR
0.882 0.160 X 67545280 missense variant C/G snv 3.3E-05 2.5E-04 3