Source: CLINVAR

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: rs121913528
rs121913528
0.851 0.160 12 25227349 missense variant C/A;T snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.700 1.000 2 2011 2014
dbSNP: rs121913528
rs121913528
0.851 0.160 12 25227349 missense variant C/A;T snv
CUI: C0151699
Disease: Intracranial Hemorrhage
Intracranial Hemorrhage
0.700 0
dbSNP: rs121913528
rs121913528
0.851 0.160 12 25227349 missense variant C/A;T snv
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects
0.700 0
dbSNP: rs121913528
rs121913528
0.851 0.160 12 25227349 missense variant C/A;T snv
CUI: C0575158
Disease: Kyphoscoliosis deformity of spine
Kyphoscoliosis deformity of spine
0.700 0
dbSNP: rs121913528
rs121913528
0.851 0.160 12 25227349 missense variant C/A;T snv
CUI: C1842881
Disease: Dilated aortic root
Dilated aortic root
0.700 0
dbSNP: rs121913528
rs121913528
0.851 0.160 12 25227349 missense variant C/A;T snv
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
0.700 0
dbSNP: rs121913528
rs121913528
0.851 0.160 12 25227349 missense variant C/A;T snv
CUI: C0424939
Disease: Learning difficulties
Learning difficulties
0.700 0
dbSNP: rs121913528
rs121913528
0.851 0.160 12 25227349 missense variant C/A;T snv
CUI: C0271618
Disease: Delayed female puberty
Delayed female puberty
0.700 0
dbSNP: rs121913528
rs121913528
0.851 0.160 12 25227349 missense variant C/A;T snv
CUI: C0521525
Disease: Short neck
Short neck
0.700 0
dbSNP: rs121913528
rs121913528
0.851 0.160 12 25227349 missense variant C/A;T snv
BLADDER CANCER, TRANSITIONAL CELL, SOMATIC
0.700 0
dbSNP: rs121913528
rs121913528
0.851 0.160 12 25227349 missense variant C/A;T snv
CUI: C0349588
Disease: Short stature
Short stature
0.700 0