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: rs763862849
rs763862849
RFT1
1.000 0.080 3 53122376 missense variant T/C;G snv 5.2E-05; 4.0E-06
CUI: C2677590
Disease: Congenital Disorder Of Glycosylation, Type In
Congenital Disorder Of Glycosylation, Type In 		0.800 1.000 0 2008 2009
dbSNP: rs118203913
rs118203913
RFT1
1.000 0.080 3 53123791 missense variant G/A snv 1.6E-05 3.5E-05
CUI: C2677590
Disease: Congenital Disorder Of Glycosylation, Type In
Congenital Disorder Of Glycosylation, Type In 		0.700 0
dbSNP: rs749968109
rs749968109
RFT1
1.000 0.080 3 53092502 missense variant C/T snv 1.6E-05
CUI: C2677590
Disease: Congenital Disorder Of Glycosylation, Type In
Congenital Disorder Of Glycosylation, Type In 		0.700 0
dbSNP: rs772820136
rs772820136
RFT1
1.000 0.080 3 53105743 missense variant A/C;G;T snv 8.0E-06
CUI: C2677590
Disease: Congenital Disorder Of Glycosylation, Type In
Congenital Disorder Of Glycosylation, Type In 		0.700 0
dbSNP: rs796053521
rs796053521
RFT1
1.000 0.080 3 53105738 missense variant C/T snv 4.0E-06
CUI: C2677590
Disease: Congenital Disorder Of Glycosylation, Type In
Congenital Disorder Of Glycosylation, Type In 		0.700 0
dbSNP: rs796053522
rs796053522
RFT1
1.000 0.080 3 53092605 missense variant T/C snv
CUI: C2677590
Disease: Congenital Disorder Of Glycosylation, Type In
Congenital Disorder Of Glycosylation, Type In 		0.700 0
dbSNP: rs913477149
rs913477149
RFT1
0.851 0.160 3 53105728 missense variant T/A;C snv
CUI: C2677590
Disease: Congenital Disorder Of Glycosylation, Type In
Congenital Disorder Of Glycosylation, Type In 		0.700 0
dbSNP: rs913477149
rs913477149
RFT1
0.851 0.160 3 53105728 missense variant T/A;C snv
CUI: C1836047
Disease: Long face
Long face 		0.700 0
dbSNP: rs913477149
rs913477149
RFT1
0.851 0.160 3 53105728 missense variant T/A;C snv
CUI: C0038379
Disease: Strabismus
Strabismus 		0.700 0
dbSNP: rs913477149
rs913477149
RFT1
0.851 0.160 3 53105728 missense variant T/A;C snv
CUI: C4317093
Disease: Reduced factor XI activity
Reduced factor XI activity 		0.700 0
dbSNP: rs913477149
rs913477149
RFT1
0.851 0.160 3 53105728 missense variant T/A;C snv
CUI: C2749688
Disease: Abnormal isoelectric focusing of serum transferrin
Abnormal isoelectric focusing of serum transferrin 		0.700 0
dbSNP: rs913477149
rs913477149
RFT1
0.851 0.160 3 53105728 missense variant T/A;C snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs913477149
rs913477149
RFT1
0.851 0.160 3 53105728 missense variant T/A;C snv
CUI: C1836543
Disease: Thick vermilion border
Thick vermilion border 		0.700 0
dbSNP: rs913477149
rs913477149
RFT1
0.851 0.160 3 53105728 missense variant T/A;C snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 0
dbSNP: rs913477149
rs913477149
RFT1
0.851 0.160 3 53105728 missense variant T/A;C snv
CUI: C0424230
Disease: Motor retardation
Motor retardation 		0.700 0
dbSNP: rs913477149
rs913477149
RFT1
0.851 0.160 3 53105728 missense variant T/A;C snv
CUI: C0037769
Disease: West Syndrome
West Syndrome 		0.700 0
dbSNP: rs913477149
rs913477149
RFT1
0.851 0.160 3 53105728 missense variant T/A;C snv
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.700 0
dbSNP: rs913477149
rs913477149
RFT1
0.851 0.160 3 53105728 missense variant T/A;C snv
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs913477149
rs913477149
RFT1
0.851 0.160 3 53105728 missense variant T/A;C snv
CUI: C1861443
Disease: Facial hemangioma
Facial hemangioma 		0.700 0