Source: CURATED ×
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: rs1057518965
rs1057518965
ATM
5 0.882 0.320 11 108244812 frameshift variant A/- delins 0.700 0
dbSNP: rs1336343565
rs1336343565
RAG1 ; RAG2 ; IFTAP
1 11 36592848 missense variant G/T snv 7.0E-06 0.700 0
dbSNP: rs1555119899
rs1555119899
ATM ; C11orf65
7 0.925 0.240 11 108326149 missense variant G/C snv 0.700 0
dbSNP: rs1555257073
rs1555257073
POMP
25 0.827 0.120 13 28672407 frameshift variant AT/- delins 0.700 0
dbSNP: rs1555908409
rs1555908409
RAC2
7 0.851 0.160 22 37232842 missense variant C/T snv 0.700 0
dbSNP: rs3218716
rs3218716
MYH7
17 0.716 0.280 14 23425316 missense variant C/A;G;T snv 4.0E-06; 2.4E-05 0.700 0
dbSNP: rs74315329
rs74315329
MYOC ; MYOCOS
9 0.732 0.240 1 171636338 stop gained G/A snv 1.1E-03 8.7E-04 0.700 0