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: rs764358419
rs764358419
CHMP1A
1.000 16 89649495 splice region variant G/A;T snv 1.6E-05; 1.2E-05
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 3 2001 2012
dbSNP: rs764358419
rs764358419
CHMP1A
1.000 16 89649495 splice region variant G/A;T snv 1.6E-05; 1.2E-05
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 3 2001 2012
dbSNP: rs1064794609
rs1064794609
CHMP1A
1.000 0.080 16 89647238 stop gained C/A;G;T snv 4.2E-06; 4.2E-06
CUI: C1843504
Disease: Pontocerebellar Hypoplasia Type 1
Pontocerebellar Hypoplasia Type 1 		0.700 0
dbSNP: rs397515426
rs397515426
CHMP1A
1.000 0.040 16 89651586 stop gained G/A snv 4.0E-06 1.4E-04
CUI: C3554209
Disease: Congenital pontocerebellar hypoplasia type 8
Congenital pontocerebellar hypoplasia type 8 		0.700 0
dbSNP: rs398122918
rs398122918
CHMP1A
1.000 0.040 16 89651659 intron variant C/A;T snv 4.0E-06; 8.1E-06
CUI: C3554209
Disease: Congenital pontocerebellar hypoplasia type 8
Congenital pontocerebellar hypoplasia type 8 		0.700 0