KIF14, kinesin family member 14, 9928

N. diseases: 103; N. variants: 10
Disease: MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE ×
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: rs1553259528
rs1553259528 		1.000 1 200598241 missense variant G/C snv
CUI: C4693572
Disease: MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE 		0.800 1.000 2 2017 2018
dbSNP: rs139385693
rs139385693 		1.000 1 200598264 missense variant G/A snv 4.0E-06
CUI: C4693572
Disease: MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE 		0.700 1.000 2 2017 2018
dbSNP: rs1553253022
rs1553253022 		1.000 1 200554603 frameshift variant T/- delins
CUI: C4693572
Disease: MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs1553254322
rs1553254322 		1.000 1 200565069 splice region variant C/T snv
CUI: C4693572
Disease: MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs1553259539
rs1553259539 		1.000 1 200598304 inframe deletion AAC/- delins
CUI: C4693572
Disease: MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs1553264033
rs1553264033 		1.000 1 200618461 stop gained A/T snv
CUI: C4693572
Disease: MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs1553264036
rs1553264036 		1.000 1 200618478 frameshift variant A/- del
CUI: C4693572
Disease: MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs981349334
rs981349334 		1.000 1 200565669 missense variant C/A snv
CUI: C4693572
Disease: MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE 		0.700 0