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
RS1743380522 CWC27 Health Risk Pathogenic —
RS1743386760 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS1743394245 NIPBL Health Risk Likely pathogenic Vesicoureteral reflux, Mild intellectual disability
RS1743537160 RETREG1 Health Risk Pathogenic —
RS1743560254 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1743583345 AP3B1 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2
RS1743611889 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1743668356 OXCT1 Health Risk Likely pathogenic Succinyl-CoA acetoacetate transferase deficiency, Succinyl-CoA acetoacetate transferase deficiency
RS1743680168 MSH3 Health Risk Pathogenic Familial adenomatous polyposis 4, Familial adenomatous polyposis 4
RS1743709062 LMBRD2 Health Risk Likely pathogenic brain structure abnormalities, Developmental delay
RS1743846367 PROM1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1743896594 SPG7 Health Risk Likely pathogenic Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS1743983240 CWC27 Health Risk Pathogenic —
RS1744033286 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1744037495 MSH3 Health Risk Pathogenic —
RS1744038356 MSH3 Health Risk Pathogenic —
RS1744118616 AP3B1 Health Risk Pathogenic Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2
RS1744128996 GFM2 Health Risk Likely pathogenic Combined oxidative phosphorylation deficiency 39, Combined oxidative phosphorylation deficiency 39
RS1744149615 MSH3 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 4
RS1744152835 MSH3 Health Risk Pathogenic Familial adenomatous polyposis 4, Hereditary cancer-predisposing syndrome
RS1744154190 MSH3 Health Risk Pathogenic —
RS1744154635 MSH3 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1744167818 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1744168201 MSH3 Health Risk Pathogenic Familial adenomatous polyposis 4, Hereditary cancer-predisposing syndrome
RS1744169857 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1744257909 LIFR Health Risk Likely pathogenic Stuve-Wiedemann syndrome, Stuve-Wiedemann syndrome
RS1744285692 MSH3 Health Risk Pathogenic —
RS1744286516 MSH3 Health Risk Pathogenic Familial adenomatous polyposis 4, Familial adenomatous polyposis 4
RS1744286598 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1744287132 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1744295671 PIK3R1 Health Risk Pathogenic —
RS1744302993 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1744309029 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1744312712 NEK1 Health Risk Likely pathogenic Amyotrophic lateral sclerosis, susceptibility to
RS1744320103 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1744356274 MSH3 Health Risk Pathogenic/Likely pathogenic Endometrial carcinoma, Familial adenomatous polyposis 4
RS1744356530 MSH3 Health Risk Likely pathogenic Familial adenomatous polyposis 4, Familial adenomatous polyposis 4
RS1744357992 TRIO Health Risk Pathogenic —
RS1744436254 LIFR Health Risk Pathogenic —
RS1744464153 PRDM5 Health Risk Conflicting classifications of pathogenicity Brittle cornea syndrome 2, Brittle cornea syndrome 2
RS1744470051 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1744509983 LIFR Health Risk Pathogenic —
RS1744531551 MSH3 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1744532481 MSH3 Health Risk Pathogenic Familial adenomatous polyposis 4, Familial adenomatous polyposis 4
RS1744532526 MSH3 Health Risk Pathogenic —
RS1744583469 CWC27 Health Risk Pathogenic —
RS1744629354 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1744630430 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1744639200 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS1744650400 FAT1 Health Risk Pathogenic —
RS1744666930 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3
RS1744682329 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS1744695193 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS1744699899 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1744706299 LIAS Health Risk Pathogenic Lipoic acid synthetase deficiency, Lipoic acid synthetase deficiency
RS1744708369 LIAS Health Risk Pathogenic Lipoic acid synthetase deficiency, Lipoic acid synthetase deficiency
RS1744715983 LIAS Health Risk Likely pathogenic Lipoic acid synthetase deficiency, Lipoic acid synthetase deficiency
RS1744806313 LIAS Health Risk Likely pathogenic Lipoic acid synthetase deficiency, Lipoic acid synthetase deficiency
RS1744807781 LIAS Health Risk Pathogenic Lipoic acid synthetase deficiency, Lipoic acid synthetase deficiency
RS1744812773 MCCC2 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS1744829646 MFSD8 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS1744838539 FAT1 Health Risk Pathogenic —
RS1744878590 LIFR Health Risk Pathogenic —
RS1744987309 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1744988064 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1745048937 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 4
RS1745050969 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1745058899 LIAS Health Risk Likely pathogenic Lipoic acid synthetase deficiency, Lipoic acid synthetase deficiency
RS1745065951 LIFR Health Risk Pathogenic —
RS1745202896 LRBA Health Risk Pathogenic Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS1745248753 LIFR Health Risk Pathogenic —
RS17452588 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Tibial muscular dystrophy
RS1745281144 ADGRV1 Health Risk Pathogenic Usher syndrome type 2C, Usher syndrome type 2C
RS1745312195 ADGRV1 Health Risk Pathogenic —
RS1745312538 ADGRV1 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS1745315730 LIFR Health Risk Pathogenic —
RS1745344357 MCCC2 Health Risk Pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS1745348853 MCIDAS Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1745349301 MCIDAS Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1745349463 MCCC2 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS1745368018 TRIO Health Risk Likely pathogenic Intellectual developmental disorder, autosomal dominant 63
RS1745369142 TRIO Health Risk Pathogenic/Likely pathogenic Intellectual developmental disorder, autosomal dominant 63
RS1745476784 MCCC2 Health Risk Pathogenic/Likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS1745528455 HCN1 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy with febrile seizures plus, type 10
RS1745570250 CCNO Health Risk Likely pathogenic Primary ciliary dyskinesia 29, Primary ciliary dyskinesia 29
RS1745582317 MCCC2 Health Risk Pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS1745583820 CCNO Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1745585444 MCCC2 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS1745611424 CCNO Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1745647423 CCNO Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1745671912 HCN1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 24
RS1745712448 SLC6A19 Health Risk Pathogenic —
RS1745753552 LIFR Health Risk Pathogenic Stuve-Wiedemann syndrome, Stüve-Wiedemann syndrome 1
RS1745754747 LIFR Health Risk Pathogenic —
RS1745823859 LIFR Health Risk Pathogenic —
RS1745878088 MSH3 Health Risk Pathogenic Familial adenomatous polyposis 4, Hereditary cancer-predisposing syndrome
RS1745879944 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1745881166 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1745928643 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1745933925 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
« Prev 1 ... 1209 1210 1211 1212 1213 1214 1215 ... 4509 Next »

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

Get Started Free →