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: rs387906959
rs387906959
COG6
1.000 13 39723394 missense variant G/C;T snv 4.0E-06
CUI: C3553230
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl 		0.800 1.000 0 2010 2010
dbSNP: rs1259563970
rs1259563970
COG6 ; MIR4305
1.000 13 39665114 stop gained C/G;T snv 7.0E-06
CUI: C3553230
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl 		0.700 0
dbSNP: rs1292534396
rs1292534396
COG6
0.925 0.280 13 39719778 stop gained T/G snv 8.0E-06 1.4E-05
CUI: C3809160
Disease: Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome 		0.700 0
dbSNP: rs1292534396
rs1292534396
COG6
0.925 0.280 13 39719778 stop gained T/G snv 8.0E-06 1.4E-05
CUI: C3553230
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl 		0.700 0
dbSNP: rs1555277827
rs1555277827
COG6
1.000 13 39699572 frameshift variant -/A delins
CUI: C3553230
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl 		0.700 0
dbSNP: rs200177031
rs200177031
COG6
1.000 13 39677550 stop gained C/T snv 3.2E-05 3.5E-05
CUI: C3553230
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl 		0.700 0
dbSNP: rs730882236
rs730882236
COG6
0.925 0.280 13 39699477 intron variant A/G snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs730882236
rs730882236
COG6
0.925 0.280 13 39699477 intron variant A/G snv
CUI: C0020620
Disease: Hypohidrosis
Hypohidrosis 		0.700 0
dbSNP: rs730882236
rs730882236
COG6
0.925 0.280 13 39699477 intron variant A/G snv
CUI: C3809160
Disease: Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome 		0.700 0
dbSNP: rs752232501
rs752232501
COG6
1.000 13 39655727 start lost A/C;G snv 4.7E-06
CUI: C3553230
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl 		0.700 0
dbSNP: rs756826030
rs756826030
COG6
1.000 13 39682261 missense variant A/C;G snv 4.0E-06; 4.0E-06
CUI: C3553230
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl 		0.700 0