RXYLT1, ribitol xylosyltransferase 1, 10329

N. diseases: 55; N. variants: 13
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: rs150736997
rs150736997 		0.925 0.120 12 63808776 missense variant A/G snv 1.6E-05 2.1E-05
CUI: C3554381
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 10
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 10 		0.800 1.000 5 2012 2016
dbSNP: rs397514544
rs397514544 		1.000 12 63808779 missense variant GA/TT mnv
CUI: C3554381
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 10
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 10 		0.700 1.000 5 2012 2016
dbSNP: rs1565898123
rs1565898123 		1.000 12 63781018 splice acceptor variant G/- del
CUI: C3554381
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 10
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 10 		0.700 1.000 2 2012 2013
dbSNP: rs778174763
rs778174763 		1.000 12 63802406 splice donor variant G/A snv
CUI: C3554381
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 10
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 10 		0.700 1.000 2 2012 2013
dbSNP: rs150736997
rs150736997 		0.925 0.120 12 63808776 missense variant A/G snv 1.6E-05 2.1E-05
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs1555228198
rs1555228198 		1.000 12 63808730 stop gained C/T snv
CUI: C3554381
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 10
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 10 		0.700 0
dbSNP: rs1565899712
rs1565899712 		1.000 12 63785034 stop gained G/A snv
CUI: C3554381
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 10
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 10 		0.700 0
dbSNP: rs397514543
rs397514543 		1.000 12 63805285 frameshift variant G/- del 4.0E-06 7.0E-06
CUI: C3554381
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 10
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 10 		0.700 0
dbSNP: rs397514545
rs397514545 		1.000 12 63808824 frameshift variant ACGTGATGACAGCTGGCAACTGTGGGAA/- del 8.0E-06
CUI: C3554381
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 10
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 10 		0.700 0
dbSNP: rs397514546
rs397514546 		1.000 12 63781126 frameshift variant A/- delins 4.1E-06
CUI: C3554381
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 10
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 10 		0.700 0
dbSNP: rs397514695
rs397514695 		1.000 12 63808778 stop gained C/A;T snv 1.2E-05; 1.6E-05
CUI: C3554381
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 10
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 10 		0.700 0
dbSNP: rs397514696
rs397514696 		1.000 12 63780095 frameshift variant G/- delins
CUI: C3554381
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 10
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 10 		0.700 0
dbSNP: rs748590408
rs748590408 		1.000 12 63780076 frameshift variant GGGCCTCAGGAAGGGGGCGGCCCCCGCG/- delins 1.4E-05
CUI: C3554381
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 10
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 10 		0.700 0
dbSNP: rs948674144
rs948674144 		1.000 12 63802308 frameshift variant A/- delins
CUI: C3554381
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 10
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 10 		0.700 0