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
RS1561299289 MARVELD2 Health Risk Pathogenic/Likely pathogenic Deafness, Hearing loss
RS1561299903 PIK3R1 Health Risk Pathogenic SHORT syndrome, Immunodeficiency 36 with lymphoproliferation
RS1561300506 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome
RS1561310756 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1561314246 MAP1B Health Risk Pathogenic; risk factor White matter deficit, Periventricular nodular heterotopia
RS1561315170 MAP1B Health Risk Pathogenic; risk factor Cognitive impairment, Periventricular nodular heterotopia
RS1561316757 RASA1 Health Risk Likely pathogenic Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome
RS1561322256 RASA1 Health Risk Pathogenic —
RS1561322357 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome
RS1561322754 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation 1, Capillary malformation-arteriovenous malformation 1
RS1561323791 TTN Health Risk Likely pathogenic Cardiomyopathy, Dilated cardiomyopathy 1G
RS1561325112 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1561329866 RASA1 Health Risk Pathogenic —
RS1561331089 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation 1, Capillary malformation-arteriovenous malformation 1
RS1561332950 XRCC4 Health Risk Pathogenic —
RS1561333568 RASA1 Health Risk Pathogenic —
RS1561333645 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome
RS1561334604 OCLN Health Risk Pathogenic Pseudo-TORCH syndrome 1, Pseudo-TORCH syndrome 1
RS1561347107 SKIC3 Health Risk Pathogenic —
RS1561376123 CPLANE1 Health Risk Pathogenic —
RS1561376157 CPLANE1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 17, Joubert syndrome 17
RS1561415183 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS1561416879 ADGRV1 Health Risk Pathogenic Usher syndrome type 2C, Usher syndrome type 2C
RS1561417568 LOX Health Risk Conflicting classifications of pathogenicity Congenital aneurysm of ascending aorta, Acute aortic dissection
RS1561421608 IL7R Health Risk Pathogenic —
RS1561423197 IL7R Health Risk Pathogenic/Likely pathogenic Immunodeficiency 104, Severe combined immunodeficiency disease
RS1561424886 IL7R Health Risk Pathogenic Severe combined immunodeficiency disease, Severe combined immunodeficiency disease
RS1561430786 CYP4V2 Health Risk Pathogenic —
RS1561441451 ADGRV1 Health Risk Pathogenic Usher syndrome type 2C, Usher syndrome type 2C
RS1561442127 HSD17B4 Health Risk Likely pathogenic Perrault syndrome, Bifunctional peroxisomal enzyme deficiency
RS1561445097 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial multiple polyposis syndrome
RS1561445221 TTN Health Risk Likely pathogenic Cardiomyopathy, Cardiomyopathy
RS1561449604 DNAH5 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1561456373 HSD17B4 Health Risk Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Perrault syndrome
RS1561457987 HSD17B4 Health Risk Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Bifunctional peroxisomal enzyme deficiency
RS1561458987 CPLANE1 Health Risk Likely pathogenic —
RS1561461125 FBN2 Health Risk Pathogenic Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS1561463486 HSD17B4 Health Risk Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Perrault syndrome 1
RS1561464190 APC Health Risk Likely pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1561464319 APC Health Risk Pathogenic/Likely pathogenic Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS1561465195 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1561470471 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1561476089 DNAH5 Health Risk Likely pathogenic Primary Ciliary Dyskinesia (DNAH5-related), Primary Ciliary Dyskinesia (DNAH5-related)
RS1561477658 APC Health Risk Likely pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1561477725 DNAH5 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, DNAH5-related disorder
RS1561477861 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1561478536 APC Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1561480377 POC5 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Syndromic retinitis pigmentosa
RS1561482476 STING1 Health Risk Pathogenic/Likely pathogenic STING-associated vasculopathy with onset in infancy, STING-associated vasculopathy with onset in infancy
RS1561485663 HSD17B4 Health Risk Pathogenic Bifunctional peroxisomal enzyme deficiency, Perrault syndrome
RS1561485947 APC Health Risk Pathogenic/Likely pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1561486630 MSH3 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Endometrial carcinoma
RS1561486632 MSH3 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Endometrial carcinoma
RS1561487416 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1561490982 F11 Health Risk Pathogenic —
RS1561498701 SMN1 Health Risk Pathogenic Spinal muscular atrophy, type II
RS1561499582 SMN1 Health Risk Likely pathogenic —
RS1561499612 SMN1 Health Risk Pathogenic —
RS1561499692 SMN1 Health Risk Likely pathogenic —
RS1561499713 SMN1 Health Risk Pathogenic Spinal muscular atrophy, type II
RS1561499720 SMN1 Health Risk Pathogenic —
RS1561499737 SMN1 Health Risk Pathogenic —
RS1561499748 SMN1 Health Risk Pathogenic/Likely pathogenic —
RS1561500842 SMN1 Health Risk Pathogenic Kugelberg-Welander disease, Kugelberg-Welander disease
RS1561500847 SMN1 Health Risk Pathogenic Werdnig-Hoffmann disease, Werdnig-Hoffmann disease
RS1561500885 SMN1 Health Risk Pathogenic/Likely pathogenic —
RS1561500920 SMN1 Health Risk Likely pathogenic —
RS1561502158 ERCC8 Health Risk Pathogenic/Likely pathogenic Cockayne syndrome type 1, Cockayne syndrome type 1
RS1561503058 SMN1 Health Risk Pathogenic Spinal muscular atrophy, Spinal muscular atrophy
RS1561514828 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1561515242 CAMK4 Health Risk Pathogenic Intellectual disability, Involuntary movements
RS1561516534 CPLANE1 Health Risk Likely pathogenic —
RS1561518112 TRIO Health Risk Pathogenic —
RS1561523678 NR2F1 Health Risk Conflicting classifications of pathogenicity —
RS1561523716 NR2F1 Health Risk Likely pathogenic Bosch-Boonstra-Schaaf optic atrophy syndrome, Bosch-Boonstra-Schaaf optic atrophy syndrome
RS1561523796 NR2F1 Health Risk Pathogenic —
RS1561524235 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1561532139 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1561534888 ADGRV1 Health Risk Pathogenic —
RS1561535921 HINT1 Health Risk Pathogenic Autosomal recessive axonal neuropathy with neuromyotonia, Autosomal recessive axonal neuropathy with neuromyotonia
RS1561537267 HINT1 Health Risk Likely pathogenic Sensory axonal neuropathy, Sensory axonal neuropathy
RS1561540623 TCOF1 Health Risk Pathogenic Treacher Collins syndrome 1, Treacher Collins syndrome 1
RS1561540666 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1561542165 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial multiple polyposis syndrome
RS1561543496 ADGRV1 Health Risk Pathogenic Usher syndrome type 2C, Usher syndrome type 2C
RS1561545780 APC Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1561545947 APC Health Risk Pathogenic/Likely pathogenic Familial multiple polyposis syndrome, Hereditary cancer-predisposing syndrome
RS1561549124 TRIO Health Risk Likely pathogenic —
RS1561553403 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1561553939 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1561555761 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, APC-related disorder
RS1561557254 NDUFAF2 Health Risk Pathogenic Mitochondrial complex I deficiency, nuclear type 10
RS1561560424 SLC22A5 Health Risk Pathogenic/Likely pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS1561566541 SLC22A5 Health Risk Likely pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS1561568510 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1561569140 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1561569606 APC Health Risk Pathogenic/Likely pathogenic Familial multiple polyposis syndrome, Hereditary cancer-predisposing syndrome
RS1561574581 APC Health Risk Likely pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1561574634 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1561574860 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
« Prev 1 ... 965 966 967 968 969 970 971 ... 4509 Next »

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

Get Started Free →