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: rs1277132301
rs1277132301
CTNND1 ; TMX2-CTNND1
1 1.000 11 57808396 stop gained C/G;T snv 4.1E-06 0.700 0
dbSNP: rs1555053981
rs1555053981
CTNND1 ; TMX2-CTNND1
1 1.000 11 57796641 frameshift variant T/- delins 0.700 0
dbSNP: rs1555057581
rs1555057581
CTNND1 ; TMX2-CTNND1
1 1.000 11 57801869 stop gained C/T snv 0.700 0