SNP Directory

450,817 genetic variants in our database.

All (450,817) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS2126611738 TRIO Health Risk Likely pathogenic Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome, Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
RS2126614292 TERT Health Risk Pathogenic/Likely pathogenic Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita
RS2126616654 SLC9A3 Health Risk Likely pathogenic —
RS2126617138 MMAA Health Risk Pathogenic Methylmalonic aciduria, cblA type
RS2126617841 TERT Health Risk Pathogenic Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita
RS2126617890 TERT Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 2
RS2126619895 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2126619930 MMAA Health Risk Pathogenic Methylmalonic aciduria, cblA type
RS2126619946 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2126620903 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2126621004 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2126621163 SLC9A3 Health Risk Pathogenic —
RS2126622813 MMAA Health Risk Pathogenic/Likely pathogenic Methylmalonic aciduria, cblA type
RS2126627182 MMAA Health Risk Pathogenic Methylmalonic aciduria, cblA type
RS2126629821 MMAA Health Risk Conflicting classifications of pathogenicity See cases, Methylmalonic aciduria
RS2126631964 SDHA Health Risk Pathogenic Mitochondrial complex II deficiency, nuclear type 1
RS2126632404 SDHA Health Risk Pathogenic Mitochondrial complex II deficiency, nuclear type 1
RS2126633124 SDHA Health Risk Likely pathogenic Mitochondrial complex II deficiency, nuclear type 1
RS2126633433 SDHA Health Risk Likely pathogenic —
RS2126633452 RETREG1 Health Risk Pathogenic —
RS2126633505 SDHA Health Risk Pathogenic Mitochondrial complex II deficiency, nuclear type 1
RS2126633648 SDHA Health Risk Pathogenic Mitochondrial complex II deficiency, nuclear type 1
RS2126637259 TRIO Health Risk Likely pathogenic —
RS2126640512 ANKH;ANKH-DT Health Risk Likely pathogenic Chondrocalcinosis 2, Rare epilepsy
RS2126641674 SDHA Health Risk Conflicting classifications of pathogenicity Mitochondrial complex II deficiency, nuclear type 1
RS2126644399 TERT Health Risk Pathogenic Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita
RS2126645870 MTRR Health Risk Likely pathogenic Neural tube defects, folate-sensitive
RS2126647142 ADGRV1 Health Risk Pathogenic —
RS2126649912 TERT Health Risk Pathogenic Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita
RS2126657667 NR3C2 Health Risk Likely pathogenic Autosomal dominant pseudohypoaldosteronism type 1, Autosomal dominant pseudohypoaldosteronism type 1
RS2126660137 TRIO Health Risk Pathogenic —
RS2126663415 MTRR Health Risk Pathogenic Methylcobalamin deficiency type cblE, Methylcobalamin deficiency type cblE
RS2126675629 MTRR Health Risk Pathogenic Methylcobalamin deficiency type cblE, Methylcobalamin deficiency type cblE
RS2126675707 MTRR Health Risk Pathogenic/Likely pathogenic Methylcobalamin deficiency type cblE, MTRR-related disorder
RS2126676051 MTRR Health Risk Likely pathogenic Methylcobalamin deficiency type cblE, Methylcobalamin deficiency type cblE
RS2126684234 TERT Health Risk Pathogenic Dyskeratosis congenita, autosomal dominant 2
RS2126684546 HSD17B4 Health Risk Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Bifunctional peroxisomal enzyme deficiency
RS2126684848 TERT Health Risk Pathogenic Dyskeratosis congenita, autosomal dominant 2
RS2126685887 TERT Health Risk Pathogenic Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita
RS2126686445 TERT Health Risk Pathogenic Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita
RS2126687935 TERT Health Risk Pathogenic Dyskeratosis congenita, autosomal dominant 2
RS2126688998 TERT Health Risk Pathogenic Dyskeratosis congenita, Dyskeratosis congenita
RS2126689141 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3
RS2126689875 HSD17B4 Health Risk Pathogenic/Likely pathogenic Perrault syndrome, Bifunctional peroxisomal enzyme deficiency
RS2126689896 HSD17B4 Health Risk Pathogenic Bifunctional peroxisomal enzyme deficiency, Bifunctional peroxisomal enzyme deficiency
RS2126690458 HSD17B4 Health Risk Conflicting classifications of pathogenicity Perrault syndrome 1, Bifunctional peroxisomal enzyme deficiency
RS2126691326 TERT Health Risk Likely pathogenic Dyskeratosis congenita, autosomal dominant 2
RS2126691416 TERT Health Risk Pathogenic Dyskeratosis congenita, autosomal dominant 2
RS2126692827 MTRR Health Risk Likely pathogenic Methylcobalamin deficiency type cblE, Methylcobalamin deficiency type cblE
RS2126693109 TERT Health Risk Pathogenic Dyskeratosis congenita, autosomal dominant 2
RS2126694391 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2126696915 HSD17B4 Health Risk Pathogenic Bifunctional peroxisomal enzyme deficiency, Perrault syndrome
RS2126696991 HSD17B4 Health Risk Likely pathogenic HSD17B4-related disorder, HSD17B4-related disorder
RS2126697261 SLC12A2 Health Risk Likely pathogenic See cases, See cases
RS2126700213 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2126702418 HSD17B4 Health Risk Pathogenic Perrault syndrome, Bifunctional peroxisomal enzyme deficiency
RS2126702600 HSD17B4 Health Risk Likely pathogenic Perrault syndrome 1, Perrault syndrome 1
RS2126703106 HSD17B4 Health Risk Pathogenic Bifunctional peroxisomal enzyme deficiency, Perrault syndrome
RS2126703227 HSD17B4 Health Risk Pathogenic Bifunctional peroxisomal enzyme deficiency, Perrault syndrome
RS2126727585 MTRR Health Risk Pathogenic Methylcobalamin deficiency type cblE, Methylcobalamin deficiency type cblE
RS2126727754 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2126728109 DNAH5 Health Risk Pathogenic —
RS2126731736 F11 Health Risk Likely pathogenic Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease
RS2126740125 HSD17B4 Health Risk Pathogenic Bifunctional peroxisomal enzyme deficiency, Perrault syndrome
RS2126740316 HSD17B4 Health Risk Pathogenic/Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Perrault syndrome
RS2126745441 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2126745614 MTRR Health Risk Pathogenic Methylcobalamin deficiency type cblE, Methylcobalamin deficiency type cblE
RS2126745648 MTRR Health Risk Pathogenic Methylcobalamin deficiency type cblE, Methylcobalamin deficiency type cblE
RS2126748513 PURA Health Risk Likely pathogenic —
RS2126748515 PURA Health Risk Likely pathogenic PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
RS2126748581 PURA Health Risk Pathogenic PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
RS2126748783 PURA Health Risk Pathogenic PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
RS2126748787 PURA Health Risk Pathogenic —
RS2126748816 PURA Health Risk Likely pathogenic —
RS2126748823 PURA Health Risk Likely pathogenic —
RS2126748830 PURA Health Risk Likely pathogenic PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
RS2126748837 PURA Health Risk Likely pathogenic See cases, See cases
RS2126748843 PURA Health Risk Pathogenic PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
RS2126748922 PURA Health Risk Pathogenic PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
RS2126748969 PURA Health Risk Pathogenic PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation
RS2126748986 PURA Health Risk Likely pathogenic PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
RS2126749006 PURA Health Risk Pathogenic PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
RS2126749009 PURA Health Risk Pathogenic PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
RS2126749031 PURA Health Risk Pathogenic PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
RS2126749067 PURA Health Risk Pathogenic PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
RS2126749113 PURA Health Risk Conflicting classifications of pathogenicity PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
RS2126749118 PURA Health Risk Pathogenic PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
RS2126749156 PURA Health Risk Pathogenic PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
RS2126749179 PURA Health Risk Pathogenic PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
RS2126749210 PURA Health Risk Pathogenic PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation
RS2126749241 PURA Health Risk Likely pathogenic PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
RS2126749287 PURA Health Risk Pathogenic PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
RS2126749301 PURA Health Risk Pathogenic PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
RS2126749353 PURA Health Risk Pathogenic PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
RS2126749415 PURA Health Risk Pathogenic —
RS2126749442 PURA Health Risk Likely pathogenic PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
RS2126749445 PURA Health Risk Likely pathogenic —
RS2126749456 PURA Health Risk Likely pathogenic —
RS2126749469 PURA Health Risk Pathogenic PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
RS2126751711 HSD17B4 Health Risk Pathogenic Bifunctional peroxisomal enzyme deficiency, Perrault syndrome
« Prev 1 ... 1715 1716 1717 1718 1719 1720 1721 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →