Source: BEFREE

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: rs121918563
rs121918563
0.827 0.120 6 42721781 missense variant A/G snv 8.0E-06 1.4E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
0.010 1.000 1 2001 2001
dbSNP: rs121918563
rs121918563
0.827 0.120 6 42721781 missense variant A/G snv 8.0E-06 1.4E-05
Respiratory Distress Syndrome, Newborn
0.010 1.000 1 1997 1997