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
RS1218728112 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS1218732639 CDKN1B Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia type 4, Hereditary cancer-predisposing syndrome
RS1218736157 FKTN Health Risk Likely pathogenic Dilated cardiomyopathy 1X, Walker-Warburg congenital muscular dystrophy
RS1218755350 ADGRV1 Health Risk Likely pathogenic —
RS1218757887 MESP2 Health Risk Conflicting classifications of pathogenicity —
RS1218807903 OTOG Health Risk Pathogenic —
RS1218815001 SLC25A38 Health Risk Pathogenic Sideroblastic anemia 2, Sideroblastic anemia 2
RS1218815157 ATM Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1218848193 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS1218856350 CERKL Health Risk Likely pathogenic Retinitis pigmentosa 26, Retinitis pigmentosa 26
RS1218859102 DDB2 Health Risk Pathogenic —
RS1218867675 PEX19 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 12A (Zellweger), Peroxisome biogenesis disorder 12A (Zellweger)
RS1218883375 FSIP2 Health Risk Pathogenic Spermatogenic failure 34, Spermatogenic failure 34
RS1218889239 LAMB2 Health Risk Pathogenic Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome
RS1218912028 TERB2 Health Risk Pathogenic Spermatogenic failure 59, Spermatogenic failure 59
RS1218912272 FLG Health Risk Pathogenic 8 conditions, 8 conditions
RS1218918142 SETD5 Health Risk Pathogenic Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
RS1218945005 PBX1 Health Risk Conflicting classifications of pathogenicity Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears
RS1218962425 POT1 Health Risk Conflicting classifications of pathogenicity Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS1218976308 ANK1 Health Risk Likely pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS1218997631 LAMA2 Health Risk Pathogenic —
RS1219000676 EFTUD2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1219026826 DHCR7 Health Risk Likely pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS1219040737 KIDINS220 Health Risk Likely pathogenic —
RS1219047251 CRB2 Health Risk Likely pathogenic CRB2-related disorder, CRB2-related disorder
RS1219060764 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS121907888 GNMT Health Risk Pathogenic Glycine N-methyltransferase deficiency, Glycine N-methyltransferase deficiency
RS121907892 SLC22A12 Health Risk Pathogenic Dalmatian hypouricemia, SLC22A12-related disorder
RS121907893 SLC22A12 Health Risk Pathogenic/Likely pathogenic Dalmatian hypouricemia, Dalmatian hypouricemia
RS121907894 SLC22A12 Health Risk Pathogenic Dalmatian hypouricemia, Dalmatian hypouricemia
RS121907895 SLC22A12 Health Risk Pathogenic Dalmatian hypouricemia, Dalmatian hypouricemia
RS121907896 SLC22A12 Health Risk Pathogenic Dalmatian hypouricemia, Familial renal hypouricemia
RS121907897 SLC22A12 Health Risk Pathogenic Dalmatian hypouricemia, Dalmatian hypouricemia
RS121907898 NPHP1 Health Risk Pathogenic Nephronophthisis 1, Nephronophthisis
RS121907899 NPHP1 Health Risk Pathogenic Nephronophthisis 1, Nephronophthisis
RS121907900 WT1 Health Risk Pathogenic/Likely pathogenic Drash syndrome, Nephrotic syndrome
RS121907901 WT1 Health Risk Pathogenic Drash syndrome, Wilms tumor 1
RS121907902 WT1 Health Risk Likely pathogenic Drash syndrome, Frasier syndrome
RS121907903 WT1 Health Risk Pathogenic/Likely pathogenic Drash syndrome, WT1-related disorder
RS121907904 WT1 Health Risk Likely pathogenic Drash syndrome, Leber congenital amaurosis 10
RS121907905 WT1 Health Risk Likely pathogenic Drash syndrome, Frasier syndrome
RS121907906 WT1 Health Risk Pathogenic Drash syndrome, Wilms tumor 1
RS121907907 WT1 Health Risk Pathogenic Drash syndrome, Frasier syndrome
RS121907908 WT1 Health Risk Pathogenic Mesothelioma, Mesothelioma
RS121907909 WT1 Health Risk Pathogenic Wilms tumor 1, Frasier syndrome
RS121907910 WT1 Health Risk Pathogenic Meacham syndrome, Nephrotic syndrome
RS121907911 WT1 Health Risk Pathogenic Wilms tumor 1, Wilms tumor 1
RS121907912 PAX6 Health Risk Pathogenic Aniridia 1, Aniridia 1
RS121907913 PAX6 Health Risk Pathogenic Aniridia 1, ANTERIOR SEGMENT DYSGENESIS 5
RS121907914 PAX6 Health Risk Pathogenic Aniridia 1, Irido-corneo-trabecular dysgenesis
RS121907915 PAX6 Health Risk Pathogenic Cataracts, congenital
RS121907916 PAX6 Health Risk Pathogenic Aniridia 1, Irido-corneo-trabecular dysgenesis
RS121907917 PAX6 Health Risk Pathogenic Aniridia 1, Irido-corneo-trabecular dysgenesis
RS121907918 PAX6 Health Risk Pathogenic/Likely pathogenic Foveal hypoplasia 1, Aniridia 1
RS121907919 PAX6 Health Risk Pathogenic/Likely pathogenic Aniridia, atypical
RS121907920 PAX6 Health Risk Pathogenic Foveal hypoplasia 1 with cataract, Aniridia 1
RS121907921 PAX6 Health Risk Pathogenic ANTERIOR SEGMENT DYSGENESIS 5, MULTIPLE SUBTYPES
RS121907922 PAX6 Health Risk Pathogenic/Likely pathogenic Aniridia 1, Visual impairment
RS121907923 PAX6 Health Risk Pathogenic Coloboma of optic nerve, Coloboma of optic nerve
RS121907924 PAX6 Health Risk Pathogenic Isolated optic nerve hypoplasia, Irido-corneo-trabecular dysgenesis
RS121907925 PAX6 Health Risk Pathogenic Coloboma, ocular
RS121907926 PAX6 Health Risk Pathogenic Optic nerve aplasia, bilateral
RS121907927 PAX6 Health Risk Pathogenic Aniridia 1, Aniridia 1
RS121907928 PAX6 Health Risk Pathogenic Aniridia 1, Aniridia 1
RS121907929 PAX6 Health Risk Pathogenic Aniridia 1, Aniridia 1
RS121907930 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS121907931 ALG12 Health Risk Pathogenic/Likely pathogenic ALG12-congenital disorder of glycosylation, ALG12-congenital disorder of glycosylation
RS121907932 ALG12 Health Risk Pathogenic/Likely pathogenic ALG12-congenital disorder of glycosylation, ALG12-related disorder
RS121907933 ALG12 Health Risk Likely pathogenic ALG12-congenital disorder of glycosylation, ALG12-related disorder
RS121907934 ALG12 Health Risk Pathogenic ALG12-congenital disorder of glycosylation, ALG12-congenital disorder of glycosylation
RS121907935 ALG12 Health Risk Pathogenic ALG12-congenital disorder of glycosylation, ALG12-congenital disorder of glycosylation
RS121907936 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS121907937 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS121907938 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS121907939 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS121907940 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS121907941 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS121907942 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS121907943 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS121907945 GAA Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type II
RS121907946 GCLC Health Risk Pathogenic Gamma-glutamylcysteine synthetase deficiency, Gamma-glutamylcysteine synthetase deficiency
RS121907947 SERPING1 Health Risk Pathogenic Hereditary C1 esterase inhibitor deficiency - dysfunctional factor, Hereditary C1 esterase inhibitor deficiency - dysfunctional factor
RS121907948 SERPING1 Health Risk Pathogenic Hereditary C1 esterase inhibitor deficiency - dysfunctional factor, Hereditary angioedema type 1
RS121907949 SERPING1 Health Risk Pathogenic Hereditary C1 esterase inhibitor deficiency - dysfunctional factor, Hereditary C1 esterase inhibitor deficiency - dysfunctional factor
RS121907951 SERPING1 Health Risk Pathogenic Hereditary angioedema type 1, Hereditary angioedema type 1
RS121907952 HEXA Health Risk Pathogenic Tay-Sachs disease, Inborn genetic diseases
RS121907953 HEXA Health Risk Pathogenic Tay-Sachs disease, B1 variant
RS121907954 HEXA Health Risk Likely pathogenic Gm2-gangliosidosis, adult
RS121907955 HEXA Health Risk Pathogenic/Likely pathogenic GM2-GANGLIOSIDOSIS, JUVENILE
RS121907956 HEXA Health Risk Pathogenic GM2-GANGLIOSIDOSIS, JUVENILE
RS121907957 HEXA Health Risk Pathogenic Tay-Sachs disease, Glioma susceptibility 1
RS121907958 HEXA Health Risk Likely pathogenic Tay-Sachs disease, Tay-Sachs disease
RS121907959 HEXA Health Risk Pathogenic/Likely pathogenic TAY-SACHS DISEASE, JUVENILE
RS121907960 HEXA Health Risk Pathogenic Tay-Sachs disease, Inborn genetic diseases
RS121907961 HEXA Health Risk Pathogenic/Likely pathogenic Tay-Sachs disease, Tay-Sachs disease
RS121907962 HEXA Health Risk Pathogenic Tay-Sachs disease, Tay-Sachs disease
RS121907963 HEXA Health Risk Pathogenic Tay-Sachs disease, Tay-Sachs disease
RS121907964 HEXA Health Risk Pathogenic Tay-Sachs disease, Tay-Sachs disease
RS121907965 HEXA Health Risk Pathogenic Tay-Sachs disease, Tay-Sachs disease
RS121907966 HEXA Health Risk Pathogenic GM2-gangliosidosis, adult-onset
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