Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1554901822
rs1554901822
1.000 0.040 11 17387723 frameshift variant -/A delins
CUI: C4303593
Disease: DEND syndrome
DEND syndrome
Nervous System Diseases 0.700 0
dbSNP: rs80356618
rs80356618
0.807 0.200 11 17387595 missense variant C/A;T snv
CUI: C4303593
Disease: DEND syndrome
DEND syndrome
Nervous System Diseases 0.020 1.000 2 2006 2008
dbSNP: rs193929337
rs193929337
0.827 0.160 11 17387937 missense variant T/C snv
CUI: C4303593
Disease: DEND syndrome
DEND syndrome
Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs529884745
rs529884745
0.925 0.160 11 17387641 missense variant C/T snv 2.0E-05 5.6E-05
CUI: C4303593
Disease: DEND syndrome
DEND syndrome
Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs80356611
rs80356611
0.790 0.240 11 17387943 missense variant C/A;G;T snv 4.0E-06
CUI: C4303593
Disease: DEND syndrome
DEND syndrome
Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs80356616
rs80356616
0.732 0.360 11 17387917 missense variant C/T snv
CUI: C4303593
Disease: DEND syndrome
DEND syndrome
Nervous System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs80356620
rs80356620
0.882 0.160 11 17387593 missense variant T/G snv
CUI: C4303593
Disease: DEND syndrome
DEND syndrome
Nervous System Diseases 0.010 1.000 1 2007 2007