DST, dystonin, 667

N. diseases: 147; N. variants: 19
Disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI ×
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: rs201045495
rs201045495 		0.925 6 56620664 stop gained G/A snv 3.2E-05 4.9E-05
CUI: C3539003
Disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI 		0.700 1.000 2 2010 2015
dbSNP: rs1242078669
rs1242078669 		1.000 6 56459060 missense variant G/A;C snv 4.0E-06
CUI: C3539003
Disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI 		0.700 0
dbSNP: rs1330945347
rs1330945347 		1.000 6 56617985 splice donor variant C/A;T snv 1.4E-05
CUI: C3539003
Disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI 		0.700 0
dbSNP: rs1562435373
rs1562435373 		1.000 6 56506684 stop gained T/A snv
CUI: C3539003
Disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI 		0.700 0
dbSNP: rs201871537
rs201871537 		1.000 6 56851414 missense variant G/T snv
CUI: C3539003
Disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI 		0.700 0
dbSNP: rs398122819
rs398122819 		1.000 6 56476257 frameshift variant T/- delins 7.0E-06
CUI: C3539003
Disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI 		0.700 0
dbSNP: rs577972555
rs577972555 		0.925 6 56620568 stop gained G/A;C;T snv 4.4E-05; 3.5E-04; 4.0E-06
CUI: C3539003
Disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI 		0.700 0
dbSNP: rs748899221
rs748899221 		0.925 6 56619477 frameshift variant TTCT/- delins 8.0E-06 7.0E-06
CUI: C3539003
Disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI 		0.700 0
dbSNP: rs759006806
rs759006806 		1.000 6 56618856 frameshift variant -/T delins 4.0E-06
CUI: C3539003
Disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI 		0.700 0
dbSNP: rs770035646
rs770035646 		0.925 6 56619938 stop gained G/A;C snv 8.0E-06; 4.0E-06
CUI: C3539003
Disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI 		0.700 0
dbSNP: rs778397331
rs778397331 		0.925 6 56631281 stop gained G/A snv 4.0E-06
CUI: C3539003
Disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI 		0.700 0