KIF1A, kinesin family member 1A, 547

N. diseases: 187; N. variants: 45
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 9 ×
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: rs672601370
rs672601370 		0.790 0.160 2 240775863 missense variant G/A snv
CUI: C3280283
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 9
MENTAL RETARDATION, AUTOSOMAL DOMINANT 9 		0.800 1.000 6 2011 2017
dbSNP: rs387906799
rs387906799 		0.742 0.200 2 240788118 missense variant G/A snv
CUI: C3280283
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 9
MENTAL RETARDATION, AUTOSOMAL DOMINANT 9 		0.800 1.000 5 2011 2015
dbSNP: rs672601362
rs672601362 		0.851 0.080 2 240789246 missense variant G/A snv
CUI: C3280283
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 9
MENTAL RETARDATION, AUTOSOMAL DOMINANT 9 		0.800 1.000 4 2011 2015
dbSNP: rs672601363
rs672601363 		0.851 0.080 2 240788109 missense variant C/T snv
CUI: C3280283
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 9
MENTAL RETARDATION, AUTOSOMAL DOMINANT 9 		0.800 1.000 4 2011 2015
dbSNP: rs672601364
rs672601364 		0.925 0.040 2 240786513 missense variant C/A snv
CUI: C3280283
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 9
MENTAL RETARDATION, AUTOSOMAL DOMINANT 9 		0.800 1.000 4 2011 2015
dbSNP: rs672601365
rs672601365 		0.925 0.040 2 240786444 missense variant G/A snv 7.0E-06
CUI: C3280283
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 9
MENTAL RETARDATION, AUTOSOMAL DOMINANT 9 		0.800 1.000 4 2011 2015
dbSNP: rs672601366
rs672601366 		0.851 0.120 2 240786339 missense variant C/G snv
CUI: C3280283
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 9
MENTAL RETARDATION, AUTOSOMAL DOMINANT 9 		0.800 1.000 4 2011 2015
dbSNP: rs672601367
rs672601367 		0.851 0.080 2 240785066 missense variant T/G snv
CUI: C3280283
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 9
MENTAL RETARDATION, AUTOSOMAL DOMINANT 9 		0.800 1.000 4 2011 2015
dbSNP: rs672601368
rs672601368 		0.827 0.160 2 240785062 missense variant C/G;T snv
CUI: C3280283
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 9
MENTAL RETARDATION, AUTOSOMAL DOMINANT 9 		0.800 1.000 4 2011 2015
dbSNP: rs672601369
rs672601369 		0.790 0.120 2 240783780 missense variant C/T snv
CUI: C3280283
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 9
MENTAL RETARDATION, AUTOSOMAL DOMINANT 9 		0.800 1.000 4 2011 2015
dbSNP: rs672601371
rs672601371 		0.925 0.080 2 240783791 missense variant A/T snv
CUI: C3280283
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 9
MENTAL RETARDATION, AUTOSOMAL DOMINANT 9 		0.800 1.000 4 2011 2015
dbSNP: rs797045164
rs797045164 		0.851 0.120 2 240785063 missense variant G/A snv
CUI: C3280283
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 9
MENTAL RETARDATION, AUTOSOMAL DOMINANT 9 		0.800 1.000 4 2011 2015
dbSNP: rs387906798
rs387906798 		0.925 0.080 2 240783773 missense variant G/A snv
CUI: C3280283
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 9
MENTAL RETARDATION, AUTOSOMAL DOMINANT 9 		0.700 1.000 4 2011 2015
dbSNP: rs387907259
rs387907259 		0.925 0.080 2 240773246 missense variant G/A;C snv
CUI: C3280283
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 9
MENTAL RETARDATION, AUTOSOMAL DOMINANT 9 		0.700 1.000 4 2011 2015
dbSNP: rs1064793161
rs1064793161 		0.882 0.080 2 240775889 missense variant C/T snv
CUI: C3280283
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 9
MENTAL RETARDATION, AUTOSOMAL DOMINANT 9 		0.700 1.000 2 2015 2016
dbSNP: rs786200949
rs786200949 		0.851 0.120 2 240788208 missense variant G/A snv
CUI: C3280283
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 9
MENTAL RETARDATION, AUTOSOMAL DOMINANT 9 		0.700 1.000 2 2015 2015
dbSNP: rs1064795534
rs1064795534 		0.882 0.080 2 240788110 missense variant C/T snv
CUI: C3280283
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 9
MENTAL RETARDATION, AUTOSOMAL DOMINANT 9 		0.700 1.000 1 2015 2015
dbSNP: rs1553624714
rs1553624714 		0.882 0.080 2 240720913 splice donor variant C/G snv
CUI: C3280283
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 9
MENTAL RETARDATION, AUTOSOMAL DOMINANT 9 		0.700 1.000 1 2011 2011
dbSNP: rs1553633687
rs1553633687 		0.882 0.080 2 240762718 splice donor variant C/G snv
CUI: C3280283
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 9
MENTAL RETARDATION, AUTOSOMAL DOMINANT 9 		0.700 1.000 1 2011 2011
dbSNP: rs1559477798
rs1559477798 		0.882 0.080 2 240723560 splice acceptor variant T/C snv
CUI: C3280283
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 9
MENTAL RETARDATION, AUTOSOMAL DOMINANT 9 		0.700 1.000 1 2011 2011
dbSNP: rs1559527796
rs1559527796 		0.882 0.080 2 240785101 splice acceptor variant C/T snv
CUI: C3280283
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 9
MENTAL RETARDATION, AUTOSOMAL DOMINANT 9 		0.700 1.000 1 2011 2011
dbSNP: rs587778791
rs587778791 		0.851 0.120 2 240757337 frameshift variant A/- del 7.0E-06
CUI: C3280283
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 9
MENTAL RETARDATION, AUTOSOMAL DOMINANT 9 		0.700 1.000 1 2011 2011
dbSNP: rs751051049
rs751051049 		0.882 0.080 2 240769625 splice donor variant A/G;T snv 4.1E-06
CUI: C3280283
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 9
MENTAL RETARDATION, AUTOSOMAL DOMINANT 9 		0.700 1.000 1 2011 2011
dbSNP: rs797045050
rs797045050 		0.807 0.120 2 240797715 missense variant C/T snv
CUI: C3280283
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 9
MENTAL RETARDATION, AUTOSOMAL DOMINANT 9 		0.700 1.000 1 2017 2017
dbSNP: rs886041692
rs886041692 		0.882 0.080 2 240783776 missense variant C/G;T snv
CUI: C3280283
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 9
MENTAL RETARDATION, AUTOSOMAL DOMINANT 9 		0.700 1.000 1 2015 2015