Variant: rs281875237

present in Gene: SKIV2L;CYP21A2 present in Chromosome: 6 Position on Chromosome: 31962012 Alleles of this Variant: T/G

rs281875237 in SKIV2L;CYP21A2 gene and TRICHOHEPATOENTERIC SYNDROME 2 PMID 22444670 2012 SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome.