NIPAL1, NIPA like domain containing 1, 152519

N. diseases: 17; N. variants: 17
Disease: Plexiform leiomyoma ×
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: rs142274555
rs142274555 		1.000 4 48034600 intron variant T/C snv 3.3E-04
CUI: C2242776
Disease: Plexiform leiomyoma
Plexiform leiomyoma 		0.700 1.000 1 2018 2018