Disease: Paraganglioma
Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs587782703
SDHB
0.807 0.160 1 17053947 splice donor variant C/A;T snv 1.2E-05; 4.1E-06 8
rs587782604
SDHB
0.827 0.120 1 17022684 missense variant C/A;T snv 4.0E-06; 4.0E-06 7
rs1555119834
C11orf65 ; ATM
0.882 0.280 11 108326116 frameshift variant -/T delins 4
rs786205147
SDHC
0.882 0.120 1 161340638 missense variant G/A;T snv 4