NPAS2, neuronal PAS domain protein 2, 4862

N. diseases: 82; N. variants: 19
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: rs11123857
rs11123857
2 100987350 non coding transcript exon variant A/G snv 0.29
CUI: C0040420
Disease: Tonometry
Tonometry
0.700 1.000 1 2018 2018