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: rs878854407
rs878854407
MAGED2 ; SNORA11
1.000 X 54814725 missense variant C/T snv
CUI: C4310820
Disease: BARTTER SYNDROME, TYPE 5, ANTENATAL, TRANSIENT
BARTTER SYNDROME, TYPE 5, ANTENATAL, TRANSIENT 		0.800 1.000 0 2016 2016
dbSNP: rs1114167295
rs1114167295
MAGED2
0.827 0.160 X 54812169 frameshift variant C/- del
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 0
dbSNP: rs1114167295
rs1114167295
MAGED2
0.827 0.160 X 54812169 frameshift variant C/- del
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.700 0
dbSNP: rs1114167295
rs1114167295
MAGED2
0.827 0.160 X 54812169 frameshift variant C/- del
CUI: C0010964
Disease: Dandy-Walker Syndrome
Dandy-Walker Syndrome 		0.700 0
dbSNP: rs1114167295
rs1114167295
MAGED2
0.827 0.160 X 54812169 frameshift variant C/- del
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		0.700 0
dbSNP: rs1114167295
rs1114167295
MAGED2
0.827 0.160 X 54812169 frameshift variant C/- del
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1114167295
rs1114167295
MAGED2
0.827 0.160 X 54812169 frameshift variant C/- del
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0.700 0
dbSNP: rs875989852
rs875989852
MAGED2
1.000 X 54810073 stop gained A/G;T snv 5.7E-06
CUI: C4310820
Disease: BARTTER SYNDROME, TYPE 5, ANTENATAL, TRANSIENT
BARTTER SYNDROME, TYPE 5, ANTENATAL, TRANSIENT 		0.700 0
dbSNP: rs878854404
rs878854404
MAGED2
1.000 X 54812204 stop gained C/G snv
CUI: C4310820
Disease: BARTTER SYNDROME, TYPE 5, ANTENATAL, TRANSIENT
BARTTER SYNDROME, TYPE 5, ANTENATAL, TRANSIENT 		0.700 0
dbSNP: rs878854405
rs878854405
MAGED2
1.000 X 54812155 splice acceptor variant A/G snv
CUI: C4310820
Disease: BARTTER SYNDROME, TYPE 5, ANTENATAL, TRANSIENT
BARTTER SYNDROME, TYPE 5, ANTENATAL, TRANSIENT 		0.700 0
dbSNP: rs878854406
rs878854406
MAGED2
1.000 X 54810060 frameshift variant TG/- delins
CUI: C4310820
Disease: BARTTER SYNDROME, TYPE 5, ANTENATAL, TRANSIENT
BARTTER SYNDROME, TYPE 5, ANTENATAL, TRANSIENT 		0.700 0