rs121918549, AAAS

N. diseases: 5
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.
Glucocorticoid deficiency with achalasia
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
20 0.882 0.080 12 53321423 stop gained G/A;T snv 4.0E-06; 1.8E-04 0.810 1.000 7 2001 2012
Abnormal pigmentation
CUI: C1260926
Disease: Abnormal pigmentation
5 0.882 0.080 12 53321423 stop gained G/A;T snv 4.0E-06; 1.8E-04 0.700 0
ALACRIMA, CONGENITAL, AUTOSOMAL RECESSIVE
CUI: C4012597
Disease: ALACRIMA, CONGENITAL, AUTOSOMAL RECESSIVE
1 0.882 0.080 12 53321423 stop gained G/A;T snv 4.0E-06; 1.8E-04 0.700 0
Esophageal Stricture
CUI: C4551650
Disease: Esophageal Stricture
2 0.882 0.080 12 53321423 stop gained G/A;T snv 4.0E-06; 1.8E-04 0.700 0
Prolonged neonatal jaundice
CUI: C1859236
Disease: Prolonged neonatal jaundice
14 0.882 0.080 12 53321423 stop gained G/A;T snv 4.0E-06; 1.8E-04 0.700 0