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: rs121918549
rs121918549
AAAS
0.882 0.080 12 53321423 stop gained G/A;T snv 4.0E-06; 1.8E-04
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia 		0.810 1.000 7 2001 2012
dbSNP: rs121918549
rs121918549
AAAS
0.882 0.080 12 53321423 stop gained G/A;T snv 4.0E-06; 1.8E-04
CUI: C1260926
Disease: Abnormal pigmentation
Abnormal pigmentation 		0.700 0
dbSNP: rs121918549
rs121918549
AAAS
0.882 0.080 12 53321423 stop gained G/A;T snv 4.0E-06; 1.8E-04
CUI: C4551650
Disease: Esophageal Stricture
Esophageal Stricture 		0.700 0
dbSNP: rs121918549
rs121918549
AAAS
0.882 0.080 12 53321423 stop gained G/A;T snv 4.0E-06; 1.8E-04
CUI: C4012597
Disease: ALACRIMA, CONGENITAL, AUTOSOMAL RECESSIVE
ALACRIMA, CONGENITAL, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs121918549
rs121918549
AAAS
0.882 0.080 12 53321423 stop gained G/A;T snv 4.0E-06; 1.8E-04
CUI: C1859236
Disease: Prolonged neonatal jaundice
Prolonged neonatal jaundice 		0.700 0