Source: CURATED

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121908635
rs121908635
PER2
0.925 0.120 2 238257003 missense variant T/C snv
CUI: C3807327
Disease: ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1
ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1 		0.700 1.000 1 2001 2001
dbSNP: rs35333999
rs35333999
PER2
2 238253316 missense variant C/T snv 2.9E-02 3.0E-02
CUI: C0008810
Disease: Circadian Rhythms
Circadian Rhythms 		0.700 1.000 1 2016 2016
dbSNP: rs74508725
rs74508725
PER2
2 238278568 intron variant G/A;C snv
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs1559332542
rs1559332542
PER2
1.000 2 238271489 frameshift variant G/- delins
CUI: C3807327
Disease: ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1
ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1 		0.700 0