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
RS758597536 TTN Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS758597713 FANCI Health Risk Pathogenic Fanconi anemia, Fanconi anemia complementation group I
RS758597880 NBAS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS758598971 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS758599378 BMPR1A Health Risk Conflicting classifications of pathogenicity Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome
RS758599662 ADAMTS2 Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome, dermatosparaxis type
RS758599826 CTNNA1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS758599939 DST Health Risk Pathogenic Epidermolysis bullosa simplex 3, localized or generalized intermediate
RS758600822 TTN Health Risk Conflicting classifications of pathogenicity —
RS758600868 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis
RS758601634 PYCR1 Health Risk Pathogenic PYCR1-related de Barsy syndrome, PYCR1-related de Barsy syndrome
RS758601967 LAMA1 Health Risk Pathogenic/Likely pathogenic Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome, Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
RS758602245 CYC1 Health Risk Conflicting classifications of pathogenicity —
RS758602573 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS758603417 KDM6B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS758605716 FGFR2 Health Risk Conflicting classifications of pathogenicity FGFR2-related craniosynostosis, Levy-Hollister syndrome
RS758607519 NLRP12 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2, Autoinflammatory syndrome
RS758608221 CTDP1 Health Risk Conflicting classifications of pathogenicity Congenital cataracts-facial dysmorphism-neuropathy syndrome, Congenital cataracts-facial dysmorphism-neuropathy syndrome
RS758609113 FBP1 Health Risk Pathogenic/Likely pathogenic Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency
RS758609287 FBXO7 Health Risk Conflicting classifications of pathogenicity Parkinsonian-pyramidal syndrome, Parkinsonian-pyramidal syndrome
RS758610033 COL11A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS758610238 ADNP Health Risk Conflicting classifications of pathogenicity ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, Inborn genetic diseases
RS7586110 UGT1A8 Health Risk Conflicting classifications of pathogenicity —
RS758611156 GATM Health Risk Conflicting classifications of pathogenicity Arginine:glycine amidinotransferase deficiency, Arginine:glycine amidinotransferase deficiency
RS758612012 VPS13A Health Risk Pathogenic/Likely pathogenic Chorea-acanthocytosis, Chorea-acanthocytosis
RS758613354 CANT1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS758613718 POLG Health Risk Conflicting classifications of pathogenicity —
RS758613799 CLPB Health Risk Conflicting classifications of pathogenicity 3-methylglutaconic aciduria, type VIIB
RS758613901 CDKN1B Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia type 4, Hereditary cancer-predisposing syndrome
RS758614136 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Usher syndrome type 2A
RS758614807 CDH3 Health Risk Conflicting classifications of pathogenicity EEM syndrome, EEM syndrome
RS758615834 LRPPRC Health Risk Pathogenic/Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS758618182 FGFR3 Health Risk Conflicting classifications of pathogenicity —
RS758619186 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS758619898 NDUFAF6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS758620411 LARGE1 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy type B6, Muscular dystrophy-dystroglycanopathy type B6
RS758620810 PKD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, PKD1-related disorder
RS758621800 WDPCP Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 15, Heart defect - tongue hamartoma - polysyndactyly syndrome
RS758622001 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS758622304 FKBP14 Health Risk Likely pathogenic Ehlers-Danlos syndrome, kyphoscoliotic type
RS758622317 TREX1 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 1, Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
RS758622612 RARS2 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS758623165 UBR1 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS758624540 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS758625682 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS758626447 COL6A3 Health Risk Pathogenic Bethlem myopathy 1C, COL6A3-related disorder
RS758626716 MYH9 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorder
RS758626942 RAD21 Health Risk Likely pathogenic Acute megakaryoblastic leukemia in down syndrome, Acute megakaryoblastic leukemia in down syndrome
RS758627758 SLC3A1 Health Risk Likely pathogenic Cystine urolithiasis, Cystinuria
RS758628487 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, autosomal dominant
RS758629218 SCNN1B Health Risk Pathogenic/Likely pathogenic —
RS758630057 CNTNAP2 Health Risk Conflicting classifications of pathogenicity Self-limited epilepsy with centrotemporal spikes, Cortical dysplasia-focal epilepsy syndrome
RS758630450 MYO6 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 22, Autosomal recessive nonsyndromic hearing loss 37
RS758631207 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS758633284 ITGB3 Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS758633794 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Becker muscular dystrophy
RS758633805 PIGL Health Risk Pathogenic CHIME syndrome, CHIME syndrome
RS758634272 APRT Health Risk Likely pathogenic Adenine phosphoribosyltransferase deficiency, Adenine phosphoribosyltransferase deficiency
RS75863437 GSS Health Risk Conflicting classifications of pathogenicity Inherited glutathione synthetase deficiency, Glutathione synthetase deficiency with 5-oxoprolinuria
RS758635140 SKIC3 Health Risk Pathogenic —
RS758636143 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS758636279 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS758637006 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypercholesterolemia
RS758637255 MTMR2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS758637644 RAI1 Health Risk Conflicting classifications of pathogenicity Smith-Magenis syndrome, RAI1-related disorder
RS758637843 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, dilated
RS758639053 ASPM Health Risk Likely pathogenic —
RS758640982 LTBP4 Health Risk Pathogenic —
RS758641318 ALOXE3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 3, Autosomal recessive congenital ichthyosis 3
RS758641567 RAD50 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder
RS758641682 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS758642695 CARD14 Health Risk Conflicting classifications of pathogenicity Pityriasis rubra pilaris, Psoriasis 2
RS758642867 CTSA Health Risk Pathogenic Combined deficiency of sialidase AND beta galactosidase, Inborn genetic diseases
RS758643444 DNAH1 Health Risk Conflicting classifications of pathogenicity Ciliary dyskinesia, primary
RS758644748 PTEN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
RS758645426 MKKS Health Risk Conflicting classifications of pathogenicity McKusick-Kaufman syndrome, Bardet-Biedl syndrome 6
RS758645617 SNRNP200 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS758646032 ALAS2 Health Risk Conflicting classifications of pathogenicity X-linked sideroblastic anemia 1, X-linked sideroblastic anemia 1
RS758646234 OFD1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Orofaciodigital syndrome I
RS758646992 GCDH Health Risk Pathogenic/Likely pathogenic Glutaric aciduria, type 1
RS758647363 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS758647756 SGCA Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy
RS758648839 SLC26A4 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS758649178 SLC45A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS758649188 RNF43 Health Risk Conflicting classifications of pathogenicity —
RS758649392 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS758650140 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS758650222 DNAAF1 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS758651657 C5 Health Risk Conflicting classifications of pathogenicity Complement component 5 deficiency, Eculizumab
RS758653462 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS758654165 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS758654750 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Becker muscular dystrophy
RS758654836 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS758654948 SCN1B Health Risk Conflicting classifications of pathogenicity Brugada syndrome 5, SCN1B-related disorder
RS758654999 PRRT2 Health Risk Pathogenic Episodic kinesigenic dyskinesia, Episodic kinesigenic dyskinesia
RS758655119 HARS2 Health Risk Pathogenic —
RS758655350 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS758656481 ARSG Health Risk Conflicting classifications of pathogenicity —
RS758657008 HAX1 Health Risk Pathogenic Kostmann syndrome, Kostmann syndrome
RS758657421 SLC27A4 Health Risk Pathogenic/Likely pathogenic Ichthyosis prematurity syndrome, Ichthyosis prematurity syndrome
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