rs1345986424, SLC2A1

N. diseases: 4
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Glut1 Deficiency Syndrome
CUI: C1847501
Disease: Glut1 Deficiency Syndrome
7 0.851 0.160 1 42943291 stop gained C/A;T snv 0.700 0
Congenital hypoplasia of adrenal gland
CUI: C0220766
Disease: Congenital hypoplasia of adrenal gland
13 0.851 0.160 1 42943291 stop gained C/A;T snv 0.010 1.000 1 2015 2015
Hemiplegic migraine
CUI: C0270862
Disease: Hemiplegic migraine
14 0.851 0.160 1 42943291 stop gained C/A;T snv 0.010 1.000 1 2015 2015
X-linked Adrenal Hypoplasia
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
70 0.851 0.160 1 42943291 stop gained C/A;T snv 0.010 1.000 1 2015 2015