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: rs535089924
rs535089924
TXNL4A
1 1.000 0.240 18 79988581 5 prime UTR variant CGCGCGCGCTAGCGCCGTGCGTGCTGACGGCATG/-;CGCGCGCGCTAGCGCCGTGCGTGCTGACGGCATGCGCGCGCGCTAGCGCCGTGCGTGCTGACGGCATG;CGCGCGCGCTAGCGCCGTGCGTGCTGACGGCATGCGCGCGCGCTAGCGCCGTGCGTGCTGACGGCATGCGCGCGCGCTAGCGCCGTGCGTGCTGACGGCATG delins 4.7E-03 0.700 1.000 1 2014 2014
dbSNP: rs727502793
rs727502793
TXNL4A
1 1.000 0.240 18 79973765 stop gained C/A;T snv 8.0E-06 0.700 1.000 1 2014 2014
dbSNP: rs727502794
rs727502794
TXNL4A
1 1.000 0.240 18 79988356 stop gained G/A snv 0.700 1.000 1 2014 2014
dbSNP: rs727502795
rs727502795
TXNL4A
1 1.000 0.240 18 79988262 frameshift variant A/- del 0.700 1.000 1 2014 2014
dbSNP: rs786205699
rs786205699
TXNL4A
1 1.000 0.240 18 79988604 intron variant CGCGCTAGCGCCGTGCGTGCTGACGGCATGTGCG/- delins 1.4E-04 0.700 1.000 1 2014 2014
dbSNP: rs879255559
rs879255559
TXNL4A
1 1.000 0.240 18 79988237 splice region variant T/C snv 0.700 0