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
RS1256938703 NIPBL Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS1256944195 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1256961949 TULP1 Health Risk Likely pathogenic —
RS1256966115 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1256976418 COL7A1 Health Risk Pathogenic/Likely pathogenic Recessive dystrophic epidermolysis bullosa, 7 conditions
RS1256984931 CSF1R Health Risk Conflicting classifications of pathogenicity —
RS1256997395 CYP7B1 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS1257016169 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Cardiovascular phenotype
RS1257016632 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1257036291 ASS1 Health Risk Pathogenic Citrullinemia, Citrullinemia
RS1257076487 ABCC2 Health Risk Pathogenic —
RS1257080057 GRHPR Health Risk Likely pathogenic Primary hyperoxaluria, type II
RS1257102056 ZSWIM6 Health Risk Conflicting classifications of pathogenicity Acromelic frontonasal dysostosis, Neurodevelopmental disorder with movement abnormalities
RS1257124719 PTEN Health Risk Pathogenic Macrocephaly-autism syndrome, PTEN hamartoma tumor syndrome
RS1257138996 SLX4 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1257140426 PEX1 Health Risk Likely pathogenic Heimler syndrome 1, Heimler syndrome 1
RS1257152837 NPHP4 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS1257156248 MPL Health Risk Likely pathogenic Congenital amegakaryocytic thrombocytopenia, Congenital amegakaryocytic thrombocytopenia
RS1257171692 CSTB Health Risk Pathogenic Progressive myoclonic epilepsy, Progressive myoclonic epilepsy
RS1257172706 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS1257185309 AHI1 Health Risk Pathogenic/Likely pathogenic Joubert syndrome, Joubert syndrome 3
RS1257186325 MSH3 Health Risk Likely pathogenic —
RS1257198952 PEX10 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 6A (Zellweger), Peroxisome biogenesis disorder
RS1257204721 MMACHC Health Risk Pathogenic/Likely pathogenic Cobalamin C disease, Cobalamin C disease
RS1257235824 EIF2B5 Health Risk Pathogenic —
RS1257270850 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1257273728 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS1257292639 GCDH Health Risk Pathogenic Glutaric aciduria, type 1
RS1257306156 PKP2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 9
RS1257312391 FGFR1 Health Risk Conflicting classifications of pathogenicity FGFR1-related craniosynostosis syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia
RS1257318418 BRCA2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1257326994 LARGE1 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy type B6, Muscular dystrophy-dystroglycanopathy type B6
RS1257330000 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS1257334132 NR2E3 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa
RS1257344396 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1257345739 FBXO11 Health Risk Conflicting classifications of pathogenicity —
RS1257346590 ROS1 Health Risk Likely pathogenic Male infertility with azoospermia or oligozoospermia due to single gene mutation, Male infertility with azoospermia or oligozoospermia due to single gene mutation
RS1257347271 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1257362365 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS1257379792 TRIP11 Health Risk Pathogenic Achondrogenesis, type IA
RS1257401983 BRIP1 Health Risk Pathogenic/Likely pathogenic Breast neoplasm, Hereditary cancer-predisposing syndrome
RS1257424632 KBTBD13 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 6, Inborn genetic diseases
RS12574381 DNHD1 Health Risk Conflicting classifications of pathogenicity DNHD1-related disorder, Spermatogenic failure 65
RS1257456477 PKP2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 9, Cardiovascular phenotype
RS1257494163 CHEK2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1257495033 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Nemaline myopathy
RS1257495645 FKTN Health Risk Likely pathogenic Dilated cardiomyopathy 1X, Dilated cardiomyopathy 1X
RS1257498722 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS1257518561 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS1257538409 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1257545151 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1257547518 KCNV2 Health Risk Pathogenic —
RS1257565717 CP Health Risk Pathogenic CP-related disorder, Deficiency of ferroxidase
RS1257576855 IRF2BPL Health Risk Likely pathogenic Neurodevelopmental disorder with regression, abnormal movements
RS1257577085 SMAD4 Health Risk Conflicting classifications of pathogenicity Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome
RS1257606008 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
RS1257611357 ACAD9 Health Risk Likely pathogenic Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency
RS1257627361 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS1257660889 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS1257668817 ARID2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1257671376 TOPORS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS1257678960 GNPTAB Health Risk Pathogenic/Likely pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS1257688225 ANO5 Health Risk Conflicting classifications of pathogenicity Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L
RS1257689527 PKD1 Health Risk Pathogenic —
RS1257696096 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS1257697617 POMT2 Health Risk Pathogenic/Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS1257703465 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS1257717478 SLC12A3 Health Risk Pathogenic —
RS1257721773 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1257736144 FRAS1 Health Risk Pathogenic Fraser syndrome 1, Fraser syndrome 1
RS1257740588 RAG1 Health Risk Pathogenic Combined immunodeficiency due to partial RAG1 deficiency, Combined immunodeficiency with skin granulomas
RS1257765682 FBXL4 Health Risk Likely pathogenic Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS1257774356 PAPSS2 Health Risk Pathogenic Spondyloepimetaphyseal dysplasia, PAPSS2 type
RS1257781536 CDHR1 Health Risk Pathogenic Retinitis pigmentosa 65, Retinitis pigmentosa 65
RS1257804746 IFT140 Health Risk Pathogenic/Likely pathogenic Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS1257816310 PROC Health Risk Pathogenic Thrombophilia due to protein C deficiency, autosomal dominant
RS1257821102 VRK1 Health Risk Pathogenic Inborn genetic diseases, Pontocerebellar hypoplasia type 1A
RS1257825464 ZFYVE26 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS1257844218 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS1257877047 DSG2 Health Risk Likely pathogenic Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB
RS1257879062 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
RS1257890707 SAMHD1 Health Risk Pathogenic Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5
RS1257907226 ADSL Health Risk Conflicting classifications of pathogenicity Adenylosuccinate lyase deficiency, Inborn genetic diseases
RS1257912388 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS1257912563 SLC12A1 Health Risk Likely pathogenic —
RS1257920511 SLC39A4 Health Risk Likely pathogenic —
RS1257932527 LZTR1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS1257945890 ERCC8 Health Risk Pathogenic —
RS1257970701 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS1257971001 ATR Health Risk Pathogenic —
RS1258004616 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1258008817 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Inborn genetic diseases
RS1258009682 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1258021186 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1258046672 ANKRD11 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, KBG syndrome
RS1258050336 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1258062046 MYT1L Health Risk Pathogenic —
RS1258068273 SPAG1 Health Risk Pathogenic Primary ciliary dyskinesia 28, Primary ciliary dyskinesia 28
RS1258088207 KMT2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1258096180 ERCC4 Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group Q, Cockayne syndrome
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