Disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 ×
Source: ALL
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: rs587777027
rs587777027 		1.000 20 45419348 missense variant A/C;G snv
CUI: C3809356
Disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 		0.800 1.000 1 2013 2013
dbSNP: rs200790673
rs200790673 		1.000 20 45419293 splice acceptor variant A/G snv 5.2E-05 6.3E-05
CUI: C3809356
Disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 		0.700 1.000 2 2014 2016
dbSNP: rs527236031
rs527236031 		0.882 0.080 20 45424323 missense variant C/T snv 1.6E-05 4.2E-05
CUI: C3809356
Disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 		0.700 1.000 2 2014 2016
dbSNP: rs1277383877
rs1277383877 		0.925 20 45421428 missense variant G/T snv 7.0E-06
CUI: C3809356
Disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 		0.700 0
dbSNP: rs527236032
rs527236032 		1.000 20 45420578 frameshift variant -/T ins
CUI: C3809356
Disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 		0.700 0
dbSNP: rs571714796
rs571714796 		1.000 20 45421445 missense variant G/A;T snv 4.0E-06
CUI: C3809356
Disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 		0.700 0
dbSNP: rs751861982
rs751861982 		1.000 20 45420577 frameshift variant -/C delins 3.6E-05 4.9E-05
CUI: C3809356
Disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 		0.700 0
dbSNP: rs756632799
rs756632799 		0.882 0.080 20 45416579 stop gained G/T snv 1.6E-05 7.0E-06
CUI: C3809356
Disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 		0.700 0
dbSNP: rs763009552
rs763009552 		1.000 20 45416213 frameshift variant C/- del
CUI: C3809356
Disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 		0.700 0
dbSNP: rs771157170
rs771157170 		1.000 20 45425671 missense variant G/A;T snv 9.9E-05
CUI: C3809356
Disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 		0.700 0
dbSNP: rs774753616
rs774753616 		1.000 20 45419351 missense variant G/A snv 1.2E-05 1.4E-05
CUI: C3809356
Disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 		0.700 0