NKX6-2, NK6 homeobox 2, 84504

N. diseases: 47; N. variants: 8
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: rs1008088032
rs1008088032 		1.000 10 132785151 missense variant C/G;T snv 4.1E-06
CUI: C4479653
Disease: SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY
SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY 		0.700 0
dbSNP: rs1131692047
rs1131692047 		1.000 10 132785828 stop gained T/A snv
CUI: C4479653
Disease: SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY
SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY 		0.700 0
dbSNP: rs1131692048
rs1131692048 		1.000 10 132785372 missense variant G/C snv
CUI: C4479653
Disease: SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY
SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY 		0.700 0
dbSNP: rs1554961118
rs1554961118 		1.000 10 132785753 frameshift variant G/- delins
CUI: C4479653
Disease: SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY
SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY 		0.700 0
dbSNP: rs1565019928
rs1565019928 		1.000 10 132785142 stop gained C/T snv
CUI: C4479653
Disease: SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY
SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY 		0.700 0
dbSNP: rs1565019932
rs1565019932 		1.000 10 132785144 frameshift variant C/TA delins
CUI: C4479653
Disease: SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY
SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY 		0.700 0
dbSNP: rs1565019976
rs1565019976 		1.000 10 132785161 stop gained G/A snv
CUI: C4479653
Disease: SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY
SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY 		0.700 0
dbSNP: rs776560015
rs776560015 		1.000 10 132785294 stop gained C/A;G;T snv 2.2E-05
CUI: C4479653
Disease: SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY
SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY 		0.700 0