NUP37, nucleoporin 37, 79023

N. diseases: 24; N. variants: 4
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: rs2271266
rs2271266 		12 102112266 intron variant T/C snv 6.6E-02 3.1E-02
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 2 2015 2019
dbSNP: rs12425639
rs12425639 		1.000 0.080 12 102086645 intron variant C/A;T snv
CUI: C0027404
Disease: Narcolepsy
Narcolepsy 		Nervous System Diseases; Mental Disorders 0.700 1.000 1 2009 2009
dbSNP: rs2292303
rs2292303 		12 102119753 intron variant G/C snv 3.1E-02
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs746341112
rs746341112 		1.000 12 102074419 stop gained G/A snv 7.0E-06
CUI: C4748555
Disease: MICROCEPHALY 24, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 24, PRIMARY, AUTOSOMAL RECESSIVE 		0.700 1.000 1 2018 2018