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
RS312262784 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Inborn genetic diseases
RS312262785 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia
RS312262786 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, SPG11-related disorder
RS312262787 SPG11 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia
RS312262788 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Amyotrophic lateral sclerosis type 5
RS312262791 SPG11 Health Risk Likely pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS312262798 NOTCH2 Health Risk Pathogenic Alagille syndrome due to a NOTCH2 point mutation, Alagille syndrome due to a NOTCH2 point mutation
RS312262801 NOTCH2 Health Risk Pathogenic/Likely pathogenic Hajdu-Cheney syndrome, Inborn genetic diseases
RS312262803 SACK1H Health Risk Conflicting classifications of pathogenicity Amelogenesis imperfecta, hypocalcification type
RS312262809 OFD1 Health Risk Pathogenic Joubert syndrome, Orofaciodigital syndrome I
RS312262810 OFD1 Health Risk Pathogenic Orofaciodigital syndrome I, Joubert syndrome
RS312262811 OFD1 Health Risk Pathogenic —
RS312262818 OFD1 Health Risk Pathogenic Orofaciodigital syndrome I, Joubert syndrome
RS312262821 OFD1 Health Risk Pathogenic Orofaciodigital syndrome I, Orofaciodigital syndrome I
RS312262822 OFD1 Health Risk Pathogenic Orofaciodigital syndrome I, Orofaciodigital syndrome I
RS312262830 OFD1 Health Risk Pathogenic Joubert syndrome 10, Simpson-Golabi-Behmel syndrome type 2
RS312262833 OFD1 Health Risk Pathogenic Orofaciodigital syndrome I, Orofaciodigital syndrome I
RS312262834 OFD1 Health Risk Pathogenic Orofaciodigital syndrome I, Orofaciodigital syndrome I
RS312262840 OFD1 Health Risk Pathogenic/Likely pathogenic Joubert syndrome, Orofaciodigital syndrome I
RS312262845 OFD1 Health Risk Pathogenic Orofaciodigital syndrome I, Joubert syndrome
RS312262852 OFD1 Health Risk Pathogenic Orofaciodigital syndrome I, Orofaciodigital syndrome I
RS312262858 OFD1 Health Risk Pathogenic Orofaciodigital syndrome I, Joubert syndrome
RS312262863 OFD1 Health Risk Pathogenic Orofaciodigital syndrome I, Joubert syndrome
RS312262868 OFD1 Health Risk Pathogenic Joubert syndrome 10, Simpson-Golabi-Behmel syndrome type 2
RS312262869 OFD1 Health Risk Likely pathogenic Joubert syndrome, Orofaciodigital syndrome I
RS312262871 OFD1 Health Risk Pathogenic OFD1-related disorder, Orofaciodigital syndrome I
RS312262886 OFD1 Health Risk Pathogenic Orofaciodigital syndrome I, Orofaciodigital syndrome I
RS312262887 OFD1 Health Risk Pathogenic Orofaciodigital syndrome I, Orofaciodigital syndrome I
RS312262890 OFD1 Health Risk Pathogenic Simpson-Golabi-Behmel syndrome type 2, Orofaciodigital syndrome I
RS312262894 OFD1 Health Risk Pathogenic Joubert syndrome 10, Joubert syndrome 10
RS312262895 OFD1 Health Risk Pathogenic Joubert syndrome 10, Joubert syndrome 10
RS312262900 COMP Health Risk Pathogenic Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Carpal tunnel syndrome 2
RS312262901 COMP Health Risk Pathogenic/Likely pathogenic Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
RS312262902 COMP Health Risk Likely pathogenic —
RS312262903 COMP Health Risk Likely pathogenic Multiple epiphyseal dysplasia type 1, Multiple epiphyseal dysplasia type 1
RS312262904 COMP Health Risk Likely pathogenic Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
RS3126141 RP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS3127334 TBXT Health Risk risk factor Neural tube defects, susceptibility to
RS3129202 COL11A2 Health Risk Conflicting classifications of pathogenicity Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia
RS3134940 AGER Health Risk Likely risk allele COPD, severe early onset
RS3135755 FGFR2 Health Risk Conflicting classifications of pathogenicity FGFR2-related craniosynostosis, FGFR2-related craniosynostosis
RS3136092 ERCC4 Health Risk Conflicting classifications of pathogenicity Cockayne syndrome, Xeroderma pigmentosum
RS3136151 ERCC4 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group F
RS3136334 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome
RS3136351 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome 5
RS3136532 F2 Health Risk Conflicting classifications of pathogenicity Congenital prothrombin deficiency, Inborn genetic diseases
RS3153 IFNAR2 Health Risk Uncertain significance; association Mortality risk in patients with severe coronavirus disease (COVID-19), Associated with severe COVID-19 disease
RS3169258 APRT Health Risk Pathogenic Adenine phosphoribosyltransferase deficiency, Adenine phosphoribosyltransferase deficiency
RS3169548 ALDOA Health Risk Conflicting classifications of pathogenicity HNSHA due to aldolase A deficiency, HNSHA due to aldolase A deficiency
RS3176124 THBD Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with thrombomodulin anomaly, Atypical hemolytic-uremic syndrome with thrombomodulin anomaly
RS3176179 POLG Health Risk Pathogenic POLG-related disorder, Progressive sclerosing poliodystrophy
RS3180234 IL36RN Health Risk Conflicting classifications of pathogenicity Generalized pustular psoriasis, Acrodermatitis continua suppurativa of Hallopeau
RS3180235 IL36RN Health Risk Conflicting classifications of pathogenicity Generalized pustular psoriasis, Acrodermatitis continua suppurativa of Hallopeau
RS3180383 GALE Health Risk Pathogenic UDPglucose-4-epimerase deficiency, UDPglucose-4-epimerase deficiency
RS3180515 LAMP2 Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Danon disease
RS3181540 SDHA Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Pheochromocytoma/paraganglioma syndrome 5
RS318240735 TTBK2 Health Risk Pathogenic Spinocerebellar ataxia type 11, Spinocerebellar ataxia type 11
RS318240750 CDKN1C Health Risk Pathogenic IMAGe syndrome, Silver-Russell syndrome 1
RS318240757 RTTN Health Risk Pathogenic MICROCEPHALY, SHORT STATURE
RS318240758 HCFC1 Health Risk Pathogenic Methylmalonic acidemia with homocystinuria, type cblX
RS318240759 WNT10A Health Risk Pathogenic/Likely pathogenic Schöpf-Schulz-Passarge syndrome, Odonto-onycho-dermal dysplasia
RS318240761 WDR11 Health Risk Pathogenic Hypogonadotropic hypogonadism 14 with anosmia, Hypogonadotropic hypogonadism 14 with anosmia
RS318240762 BMP1 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta type 13, Abnormality of the skeletal system
RS319443 ATP8B1 Health Risk Pathogenic Benign recurrent intrahepatic cholestasis type 1, Benign recurrent intrahepatic cholestasis type 1
RS3203621 GNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-D
RS3205509 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS3205809 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS3206694 TUBA1A Health Risk Conflicting classifications of pathogenicity TUBA1A-related disorder, TUBA1A-related disorder
RS3207617 HNRNPA1 Health Risk Likely pathogenic Relapsing remitting multiple sclerosis, Relapsing remitting multiple sclerosis
RS3209663 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 4
RS3210083 NDUFA9 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 26
RS3210462 CHD2 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS3211893 CD36 Health Risk Conflicting classifications of pathogenicity Platelet-type bleeding disorder 10, Coronary heart disease
RS3211901 CD36 Health Risk Likely pathogenic Platelet-type bleeding disorder 10, Coronary heart disease
RS3211938 CD36 Health Risk Conflicting classifications of pathogenicity Platelet-type bleeding disorder 10, Malaria
RS3212716 JAK3 Health Risk Conflicting classifications of pathogenicity T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
RS3212977 ERCC1 Health Risk Conflicting classifications of pathogenicity Cerebrooculofacioskeletal syndrome 4, ERCC1-related disorder
RS3213408 JAK3 Health Risk Conflicting classifications of pathogenicity T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
RS3216174 G6PD Health Risk Conflicting classifications of pathogenicity Anemia, nonspherocytic hemolytic
RS3217992 CDKN2B Health Risk Likely pathogenic Malignant tumor of breast, Malignant tumor of breast
RS3218537 XRCC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group U
RS3218597 REV3L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS3218670 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS3218684 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS3218690 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS3218699 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS3218708 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS3218713 MYH7 Health Risk Pathogenic Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy
RS3218714 MYH7 Health Risk Likely pathogenic Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy
RS3218716 MYH7 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 1
RS3218727 CDT1 Health Risk Conflicting classifications of pathogenicity CDT1-related disorder, Inborn genetic diseases
RS3218740 MRE11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder 1
RS3218750 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS3218758 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS3218773 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS3218775 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS3219018 FCGR2B Health Risk risk factor Systemic lupus erythematosus, susceptibility to
RS3219160 ALS2 Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 2, juvenile
RS3219166 ALS2 Health Risk Conflicting classifications of pathogenicity Infantile-onset ascending hereditary spastic paralysis, ALS2-related disorder
RS3219457 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
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