Source: ALL

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: rs11000212
rs11000212
ASCC1
10 72195894 intron variant C/G;T snv
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2018 2018
dbSNP: rs753324947
rs753324947
ASCC1
1.000 10 72210786 frameshift variant -/C delins 2.8E-05 2.1E-05
CUI: C4225176
Disease: SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2
SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2 		0.700 0
dbSNP: rs11000217
rs11000217
ASCC1
1.000 0.120 10 72204485 stop gained G/C snv 4.0E-02 8.4E-02
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.010 1.000 1 2015 2015