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: rs387906955
rs387906955
GALC
1.000 0.120 14 87993044 missense variant C/A;T snv
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		0.810 1.000 0 1995 2013
dbSNP: rs199847983
rs199847983
GALC
1.000 0.120 14 87968386 missense variant C/T snv 2.0E-05 2.1E-05
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		0.800 1.000 9 1997 2017
dbSNP: rs752537626
rs752537626
GALC
1.000 0.120 14 87941529 missense variant T/G snv 5.2E-05 2.8E-05
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		0.800 1.000 8 1995 2016
dbSNP: rs770485731
rs770485731
GALC
1.000 0.120 14 87950724 missense variant G/A;T snv 1.6E-05; 4.0E-06
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		0.800 1.000 8 1988 2016
dbSNP: rs200960659
rs200960659
GALC
1.000 0.120 14 87945637 missense variant G/A;T snv 1.0E-04
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		0.800 1.000 7 1995 2013
dbSNP: rs886039569
rs886039569
GALC
1.000 0.120 14 87976361 missense variant A/G snv 8.0E-06
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		0.800 1.000 7 1995 2016
dbSNP: rs147313927
rs147313927
GALC
1.000 0.120 14 87986597 missense variant T/C;G snv 2.5E-03; 4.0E-06
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		0.800 1.000 6 1995 2016
dbSNP: rs756352952
rs756352952
GALC
1.000 0.120 14 87968335 missense variant G/A snv 2.4E-05 7.0E-06
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		0.800 1.000 6 1997 2018
dbSNP: rs749893889
rs749893889
GALC
1.000 0.120 14 87945632 missense variant G/A snv 4.4E-05 1.4E-05
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		0.800 1.000 5 1995 2013
dbSNP: rs387906952
rs387906952
GALC
1.000 0.120 14 87945593 missense variant C/T snv 8.0E-06 2.1E-05
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		0.800 1.000 4 1995 2013
dbSNP: rs748573754
rs748573754
GALC
1.000 0.120 14 87945566 missense variant C/T snv 8.0E-06
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		0.800 1.000 4 1995 2014
dbSNP: rs1057516642
rs1057516642
GALC
1.000 0.120 14 87965586 missense variant G/C snv
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		0.800 1.000 3 1995 2014
dbSNP: rs145580093
rs145580093
GALC
1.000 0.120 14 87986582 missense variant T/C;G snv 8.4E-05
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		0.800 1.000 0 1995 2013
dbSNP: rs387906953
rs387906953
GALC
1.000 0.120 14 87941433 missense variant A/C snv
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		0.800 1.000 0 1995 2013
dbSNP: rs387906954
rs387906954
GALC
1.000 0.120 14 87965585 missense variant G/A;C snv 4.0E-06
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		0.800 1.000 0 1995 2013
dbSNP: rs756690487
rs756690487
GALC
1.000 0.120 14 87986600 missense variant C/T snv 1.2E-05 1.4E-05
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		0.800 1.000 0 1995 2013
dbSNP: rs138577661
rs138577661
GALC
1.000 0.120 14 87939915 missense variant A/G snv 6.5E-04; 4.0E-06 1.7E-04
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		0.710 1.000 11 1997 2018
dbSNP: rs200378205
rs200378205
GALC
1.000 0.120 14 87945631 missense variant C/G;T snv 5.2E-05 4.2E-05
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		0.700 1.000 5 1999 2018
dbSNP: rs200532368
rs200532368
GALC
1.000 0.120 14 87986552 stop gained G/A;C snv 2.4E-05; 4.0E-06
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		0.700 1.000 5 2010 2016
dbSNP: rs746922378
rs746922378
GALC
1.000 0.120 14 87968359 missense variant T/A;G snv 4.0E-06
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		0.700 1.000 5 1997 2016
dbSNP: rs1555378534
rs1555378534
GALC
1.000 0.120 14 87939915 frameshift variant A/- delins
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		0.700 1.000 4 1997 2016
dbSNP: rs374635469
rs374635469
GALC
0.925 0.120 14 87986543 missense variant C/G;T snv 4.0E-06; 8.0E-06
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		0.700 1.000 4 2007 2013
dbSNP: rs377274761
rs377274761
GALC
0.776 0.240 14 87968393 missense variant C/T snv 8.0E-06 2.8E-05
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		0.700 1.000 4 1996 2016
dbSNP: rs1555383306
rs1555383306
GALC
1.000 0.120 14 87982200 splice region variant C/T snv
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		0.700 1.000 3 1997 2014
dbSNP: rs1555383687
rs1555383687
GALC
1.000 0.120 14 87986518 inframe deletion TTA/- del
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		0.700 1.000 3 2013 2016