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
RS1572151178 NCF2 Health Risk Pathogenic/Likely pathogenic Granulomatous disease, chronic
RS1572152420 CDC73 Health Risk Pathogenic/Likely pathogenic Parathyroid carcinoma, Parathyroid carcinoma
RS1572153816 PXDN Health Risk Pathogenic Anterior segment dysgenesis 7, Anterior segment dysgenesis 7
RS1572154885 CDC73 Health Risk Pathogenic Parathyroid carcinoma, Parathyroid carcinoma
RS1572163072 WDR26 Health Risk Pathogenic Skraban-Deardorff syndrome, Skraban-Deardorff syndrome
RS1572168244 WDR26 Health Risk Likely pathogenic Skraban-Deardorff syndrome, Skraban-Deardorff syndrome
RS1572186477 WDR26 Health Risk Pathogenic —
RS1572191112 HSPG2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1572204991 HSPG2 Health Risk Pathogenic Schwartz-Jampel syndrome type 1, Schwartz-Jampel syndrome type 1
RS1572210748 MYOC Health Risk Pathogenic Open-angle glaucoma, Open-angle glaucoma
RS1572215344 CDC73 Health Risk Pathogenic Parathyroid carcinoma, Parathyroid carcinoma
RS1572216329 SOX11 Health Risk Likely pathogenic Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
RS1572217107 SOX11 Health Risk Likely pathogenic Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
RS1572217314 MYCN Health Risk Pathogenic Feingold syndrome type 1, Feingold syndrome type 1
RS1572217664 TRAPPC12 Health Risk Likely pathogenic —
RS1572217717 MYCN Health Risk Likely pathogenic —
RS1572218599 MTR Health Risk Likely pathogenic Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG
RS1572220282 HSPG2 Health Risk Pathogenic Schwartz-Jampel syndrome type 1, Schwartz-Jampel syndrome type 1
RS1572220856 MYCN Health Risk Likely pathogenic Feingold syndrome type 1, Feingold syndrome type 1
RS1572221449 MYCN Health Risk Pathogenic —
RS1572221505 MYCN Health Risk Likely pathogenic —
RS1572226578 SELENON Health Risk Pathogenic Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy
RS1572226620 SELENON Health Risk Pathogenic Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy
RS1572226744 SELENON Health Risk Pathogenic Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy
RS1572227260 WDR26 Health Risk Pathogenic Skraban-Deardorff syndrome, Skraban-Deardorff syndrome
RS1572227825 HSPG2 Health Risk Pathogenic —
RS1572255047 NPHS2 Health Risk Pathogenic Nephrotic syndrome, type 2
RS1572255744 NPHS2 Health Risk Likely pathogenic Nephrotic syndrome, type 2
RS1572262649 NPHS2 Health Risk Likely pathogenic Nephrotic syndrome, type 2
RS1572262824 NPHS2 Health Risk Likely pathogenic Nephrotic syndrome, type 2
RS1572263399 PRPF3 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy
RS1572263404 PRPF3 Health Risk Pathogenic Retinitis pigmentosa 18, Retinitis pigmentosa 18
RS1572277600 NPHS2 Health Risk Pathogenic Nephrotic syndrome, type 2
RS1572278166 MTR Health Risk Pathogenic Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG
RS1572282458 NPHS2 Health Risk Likely pathogenic Nephrotic syndrome, type 2
RS1572304438 HSPG2 Health Risk Pathogenic Schwartz-Jampel syndrome, Schwartz-Jampel syndrome
RS1572309822 MTR Health Risk Pathogenic Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG
RS1572319254 HSPG2 Health Risk Pathogenic —
RS1572324681 TBCE Health Risk Pathogenic Hypoparathyroidism-retardation-dysmorphism syndrome, Hypoparathyroidism-retardation-dysmorphism syndrome
RS1572331707 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1572332164 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1572332235 LMNA Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1572332762 LMNA Health Risk Likely pathogenic Primary familial dilated cardiomyopathy, Primary familial dilated cardiomyopathy
RS1572332952 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Cardiovascular phenotype
RS1572337800 SELENOI Health Risk Pathogenic Spastic paraplegia 81, autosomal recessive
RS1572343011 ARV1 Health Risk Likely pathogenic —
RS1572356343 HSPG2 Health Risk Likely pathogenic Schwartz-Jampel syndrome, Schwartz-Jampel syndrome
RS1572358674 LMNA Health Risk Likely pathogenic Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS1572358821 LMNA Health Risk Likely pathogenic Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS1572358860 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1572359505 LMNA Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1572359848 LMNA Health Risk Pathogenic Primary dilated cardiomyopathy, Cardiovascular phenotype
RS1572359991 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1572360944 RPS7 Health Risk Likely pathogenic Diamond-Blackfan anemia 8, Diamond-Blackfan anemia 8
RS1572362631 LMNA Health Risk Likely pathogenic —
RS1572362885 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1572363397 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1572363509 LMNA Health Risk Likely pathogenic LMNA-associated condition, LMNA-associated condition
RS1572364243 LMNA Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1572366216 LMNA Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1572366412 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1572366593 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1572366608 LMNA Health Risk Likely pathogenic —
RS1572367812 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Cardiovascular phenotype
RS1572370360 LMNA Health Risk Likely pathogenic Dilated cardiomyopathy 1A, Dilated cardiomyopathy 1A
RS1572385947 CPT2 Health Risk Pathogenic/Likely pathogenic Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyl transferase II deficiency
RS1572385973 CPT2 Health Risk Likely pathogenic Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyltransferase II deficiency
RS1572389284 COLEC11 Health Risk Pathogenic 3MC syndrome 2, 3MC syndrome 2
RS1572391840 TBCE Health Risk Pathogenic/Likely pathogenic Autosomal recessive Kenny-Caffey syndrome, Hypoparathyroidism-retardation-dysmorphism syndrome
RS1572399566 OTOF Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS1572399804 OTOF Health Risk Pathogenic —
RS1572403809 KIDINS220 Health Risk Pathogenic —
RS1572418357 KCNT2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 57
RS1572423883 CAD Health Risk Pathogenic Developmental and epileptic encephalopathy, 50
RS1572426165 CAD Health Risk Likely pathogenic —
RS1572428364 SEMA4A Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS1572428834 KIDINS220 Health Risk Likely pathogenic —
RS1572502948 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS1572504096 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS1572513308 B3GALNT2 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
RS1572530443 XDH Health Risk Pathogenic Hereditary xanthinuria type 1, Hereditary xanthinuria type 1
RS1572531281 ZBTB18 Health Risk Pathogenic Intellectual disability, autosomal dominant 22
RS1572531730 ZBTB18 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 22
RS1572531765 ZBTB18 Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal dominant 22
RS1572531822 ZBTB18 Health Risk Pathogenic —
RS1572531830 ZBTB18 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 22
RS1572532005 ZBTB18 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 22
RS1572542092 MPV17 Health Risk Pathogenic Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
RS1572542511 MPV17 Health Risk Pathogenic Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), Charcot-Marie-Tooth disease
RS1572543564 MPV17 Health Risk Pathogenic Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
RS1572547466 KCNT2 Health Risk Pathogenic Inborn genetic diseases, Developmental and epileptic encephalopathy
RS1572555080 MPV17 Health Risk Likely pathogenic Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
RS1572607363 EIF2B4 Health Risk Pathogenic —
RS1572611822 MCFD2 Health Risk Likely pathogenic Factor 5 and Factor VIII, combined deficiency of
RS1572624159 SIX3 Health Risk Pathogenic Holoprosencephaly 2, Holoprosencephaly 2
RS1572624326 SIX3 Health Risk Likely pathogenic SIX3-related disorder, SIX3-related disorder
RS1572627115 RYR2 Health Risk Conflicting classifications of pathogenicity Conduction disorder of the heart, Catecholaminergic polymorphic ventricular tachycardia 1
RS1572630269 KCNT2 Health Risk Pathogenic Seizure, Developmental and epileptic encephalopathy
RS1572697714 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1572698011 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
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