DYNC1H1, dynein cytoplasmic 1 heavy chain 1, 1778

N. diseases: 174; N. variants: 39
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 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: rs387906739
rs387906739 		0.882 0.200 14 102039416 missense variant A/C snv
CUI: C3281202
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 13
MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 		0.800 1.000 5 2010 2017
dbSNP: rs387906740
rs387906740 		0.882 0.200 14 102002546 missense variant G/A snv
CUI: C3281202
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 13
MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 		0.800 1.000 5 2010 2017
dbSNP: rs397509410
rs397509410 		1.000 14 102032396 missense variant G/T snv
CUI: C3281202
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 13
MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 		0.800 1.000 5 2010 2017
dbSNP: rs397509411
rs397509411 		1.000 14 102033136 missense variant G/A snv
CUI: C3281202
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 13
MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 		0.800 1.000 5 2010 2017
dbSNP: rs397509412
rs397509412 		1.000 14 102032419 missense variant G/A snv
CUI: C3281202
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 13
MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 		0.800 1.000 5 2010 2017
dbSNP: rs797044901
rs797044901 		1.000 14 102002694 missense variant G/A;T snv
CUI: C3281202
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 13
MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 		0.800 0
dbSNP: rs879253881
rs879253881 		1.000 14 102008244 missense variant C/T snv
CUI: C3281202
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 13
MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 		0.700 1.000 5 2010 2017
dbSNP: rs1555411378
rs1555411378 		0.925 0.080 14 102033157 missense variant C/T snv
CUI: C3281202
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 13
MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 		0.700 1.000 1 2018 2018
dbSNP: rs727505393
rs727505393 		0.925 0.080 14 101997073 missense variant G/A;T snv 4.0E-06
CUI: C3281202
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 13
MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 		0.700 1.000 1 2013 2013
dbSNP: rs797045177
rs797045177 		1.000 14 101980515 missense variant G/A snv
CUI: C3281202
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 13
MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 		0.700 1.000 1 2014 2014
dbSNP: rs797045178
rs797045178 		1.000 14 101985931 missense variant G/A;C snv 4.0E-06
CUI: C3281202
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 13
MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 		0.700 1.000 1 2014 2014
dbSNP: rs1047509819
rs1047509819 		1.000 14 102000367 missense variant G/A;C snv
CUI: C3281202
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 13
MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 		0.700 0
dbSNP: rs1057518287
rs1057518287 		0.882 0.080 14 102008245 missense variant G/A;T snv
CUI: C3281202
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 13
MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 		0.700 0
dbSNP: rs1064796765
rs1064796765 		0.763 0.240 14 102002950 missense variant G/A snv
CUI: C3281202
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 13
MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 		0.700 0
dbSNP: rs1555409836
rs1555409836 		1.000 14 102009987 missense variant T/C snv
CUI: C3281202
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 13
MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 		0.700 0
dbSNP: rs1555411305
rs1555411305 		1.000 14 102032347 missense variant C/T snv
CUI: C3281202
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 13
MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 		0.700 0
dbSNP: rs1555411394
rs1555411394 		1.000 14 102033351 missense variant A/C snv
CUI: C3281202
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 13
MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 		0.700 0
dbSNP: rs587780564
rs587780564 		0.882 0.080 14 101986017 missense variant C/T snv
CUI: C3281202
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 13
MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 		0.700 0
dbSNP: rs797045529
rs797045529 		1.000 14 102038825 missense variant G/A;C snv
CUI: C3281202
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 13
MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 		0.700 0
dbSNP: rs869312693
rs869312693 		0.925 0.080 14 102034135 missense variant C/T snv
CUI: C3281202
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 13
MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 		0.700 0