Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs397514475
rs397514475
PIGN
1.000 18 62095902 missense variant C/T snv 4.0E-06 1.4E-05
CUI: C3279775
Disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 		0.800 1.000 0 2011 2011
dbSNP: rs886039216
rs886039216
PIGN
1.000 18 62147021 missense variant T/A snv
CUI: C3279775
Disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 		0.710 1.000 0 2016 2016
dbSNP: rs1555682938
rs1555682938
PIGN
1.000 18 62102822 frameshift variant T/- delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 11 1999 2016
dbSNP: rs1555682938
rs1555682938
PIGN
1.000 18 62102822 frameshift variant T/- delins
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.700 1.000 11 1999 2016
dbSNP: rs1555682938
rs1555682938
PIGN
1.000 18 62102822 frameshift variant T/- delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 11 1999 2016
dbSNP: rs746882521
rs746882521
PIGN
0.925 18 62143337 missense variant A/C snv 3.0E-05 4.9E-05
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.700 1.000 11 1999 2016
dbSNP: rs746882521
rs746882521
PIGN
0.925 18 62143337 missense variant A/C snv 3.0E-05 4.9E-05
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 11 1999 2016
dbSNP: rs746882521
rs746882521
PIGN
0.925 18 62143337 missense variant A/C snv 3.0E-05 4.9E-05
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 11 1999 2016
dbSNP: rs779636222
rs779636222
PIGN
1.000 18 62154539 splice donor variant ACAAACCT/- del 1.3E-04 9.8E-05
CUI: C3279775
Disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 		0.700 1.000 3 2014 2016
dbSNP: rs1568224018
rs1568224018
PIGN
1.000 18 62143305 splice donor variant C/A snv
CUI: C3279775
Disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 		0.700 1.000 2 2014 2016
dbSNP: rs587777186
rs587777186
PIGN
0.925 18 62146023 missense variant A/G;T snv
CUI: C3279775
Disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 		0.700 1.000 2 2014 2016
dbSNP: rs746882521
rs746882521
PIGN
0.925 18 62143337 missense variant A/C snv 3.0E-05 4.9E-05
CUI: C3279775
Disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 		0.700 1.000 2 2016 2017
dbSNP: rs760977825
rs760977825
PIGN
1.000 18 62088843 splice acceptor variant C/G snv 1.8E-05 5.6E-05
CUI: C3279775
Disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 		0.700 1.000 2 2014 2016
dbSNP: rs749334082
rs749334082
PIGN
1.000 18 62088786 stop gained A/T snv 1.1E-05 4.2E-05
CUI: C3279775
Disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 		0.700 1.000 1 2016 2016
dbSNP: rs1060499763
rs1060499763
PIGN
1.000 18 62140447 missense variant A/C snv 7.0E-06
CUI: C3279775
Disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 		0.700 0
dbSNP: rs1060499763
rs1060499763
PIGN
1.000 18 62140447 missense variant A/C snv 7.0E-06
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs1555683948
rs1555683948
PIGN
1.000 18 62106838 frameshift variant -/T delins
CUI: C3279775
Disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 		0.700 0
dbSNP: rs1555685797
rs1555685797
PIGN
1.000 18 62113310 frameshift variant G/- delins
CUI: C3279775
Disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 		0.700 0
dbSNP: rs1555696769
rs1555696769
PIGN
1.000 18 62157149 frameshift variant -/T delins
CUI: C3279775
Disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 		0.700 0
dbSNP: rs1555696900
rs1555696900
PIGN
1.000 18 62157720 missense variant C/G snv
CUI: C3279775
Disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 		0.700 0
dbSNP: rs369486176
rs369486176
PIGN
1.000 18 62113129 missense variant C/T snv 1.8E-05 7.0E-06
CUI: C3279775
Disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 		0.700 0
dbSNP: rs376226764
rs376226764
PIGN
1.000 18 62106797 stop gained G/A;C snv 2.6E-05; 8.5E-06
CUI: C3279775
Disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 		0.700 0
dbSNP: rs376355678
rs376355678
PIGN
1.000 18 62106985 splice donor variant C/G;T snv 3.1E-05
CUI: C3279775
Disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 		0.700 0
dbSNP: rs548412299
rs548412299
PIGN
1.000 18 62114572 missense variant A/T snv 1.3E-05
CUI: C3279775
Disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 		0.700 0
dbSNP: rs587777187
rs587777187
PIGN
1.000 18 62143306 missense variant C/G;T snv 8.3E-05
CUI: C3279775
Disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 		0.700 0