C1GALT1C1, C1GALT1 specific chaperone 1, 29071

N. diseases: 25; N. variants: 5
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: rs137853599
rs137853599 		1.000 0.040 X 120626713 missense variant C/T snv
CUI: C0272137
Disease: Tn Syndrome
Tn Syndrome 		Immune System Diseases 0.800 1.000 2 2005 2008
dbSNP: rs397514537
rs397514537 		1.000 0.040 X 120626590 missense variant A/G snv
CUI: C0272137
Disease: Tn Syndrome
Tn Syndrome 		Immune System Diseases 0.800 1.000 2 2005 2008
dbSNP: rs137853598
rs137853598 		1.000 0.040 X 120626965 stop gained G/A snv
CUI: C0272137
Disease: Tn Syndrome
Tn Syndrome 		Immune System Diseases 0.700 0
dbSNP: rs17261572
rs17261572 		1.000 0.040 X 120626774 missense variant A/T snv 0.20 0.16
CUI: C0272137
Disease: Tn Syndrome
Tn Syndrome 		Immune System Diseases 0.700 0
dbSNP: rs587776928
rs587776928 		1.000 0.040 X 120627164 start lost C/G snv
CUI: C0272137
Disease: Tn Syndrome
Tn Syndrome 		Immune System Diseases 0.700 0