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
RS1052959039 IYD Health Risk Pathogenic Iodotyrosine deiodination defect, Iodotyrosine deiodination defect
RS1052967197 CHIT1 Health Risk Conflicting classifications of pathogenicity Chitotriosidase deficiency, Chitotriosidase deficiency
RS1052979420 PCCB Health Risk Conflicting classifications of pathogenicity Propionic acidemia, Propionic acidemia
RS1053022395 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1053028479 ABCA12 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1053049323 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome, CREBBP-related disorder
RS1053092495 GATA4 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Atrioventricular septal defect 4
RS1053139144 NPHS2 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 2
RS1053144630 PRRT2 Health Risk Conflicting classifications of pathogenicity Episodic kinesigenic dyskinesia, Inborn genetic diseases
RS1053206465 TRIP11 Health Risk Pathogenic Achondrogenesis, type IA
RS1053256164 COL4A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1053284504 STAR Health Risk Conflicting classifications of pathogenicity Congenital lipoid adrenal hyperplasia due to STAR deficency, Congenital lipoid adrenal hyperplasia due to STAR deficency
RS1053292586 CXCR4 Health Risk Conflicting classifications of pathogenicity Warts, hypogammaglobulinemia
RS1053311636 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1053321823 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS1053423400 BMPR1A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS1053431940 CPAP Health Risk Pathogenic/Likely pathogenic Microcephaly 6, primary
RS1053454286 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS1053472547 F11 Health Risk Conflicting classifications of pathogenicity Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease
RS1053507002 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS1053524259 LOXHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS1053530158 WRN Health Risk Conflicting classifications of pathogenicity Werner syndrome, Inborn genetic diseases
RS1053537791 USH1C Health Risk Conflicting classifications of pathogenicity —
RS1053572488 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS1053579438 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, RYR1-related myopathy
RS1053590019 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome
RS1053594617 INTS1 Health Risk Likely pathogenic Neurodevelopmental disorder with cataracts, poor growth
RS1053599088 FAT1 Health Risk Pathogenic —
RS1053713532 MYO5B Health Risk Pathogenic/Likely pathogenic Congenital microvillous atrophy, Congenital microvillous atrophy
RS1053748363 CTC1 Health Risk Pathogenic Dyskeratosis congenita, Cerebroretinal microangiopathy with calcifications and cysts 1
RS1053760032 ACTA2 Health Risk Conflicting classifications of pathogenicity Multisystemic smooth muscle dysfunction syndrome, Aortic aneurysm
RS1053767552 UGDH Health Risk Likely pathogenic Epileptic encephalopathy, Epileptic encephalopathy
RS1053773776 IBA57 Health Risk Pathogenic/Likely pathogenic Multiple mitochondrial dysfunctions syndrome 3, Hereditary spastic paraplegia 74
RS1053785648 GUSB Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS1053797603 AMT Health Risk Pathogenic/Likely pathogenic Glycine encephalopathy, Glycine encephalopathy 1
RS1053812278 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Retinal dystrophy
RS1053850536 SURF1 Health Risk Pathogenic Leigh syndrome, Leigh syndrome
RS1053861538 SLC25A13 Health Risk Conflicting classifications of pathogenicity Citrin deficiency, Citrin deficiency
RS1053887162 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1053923190 SAMD9L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1053960780 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1054003194 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1054011070 PKD1 Health Risk Pathogenic Autosomal dominant polycystic kidney disease, Autosomal dominant polycystic kidney disease
RS1054025123 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Kabuki syndrome
RS1054083917 MCM7 Health Risk Pathogenic Meier-Gorlin syndrome, Meier-Gorlin syndrome
RS1054084896 TYMP Health Risk Pathogenic Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1
RS1054138918 BBS5 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 5
RS1054159992 ALPL Health Risk Pathogenic/Likely pathogenic Infantile hypophosphatasia, Hypophosphatasia
RS1054186954 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS1054187115 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1054194575 ABCC2 Health Risk Likely pathogenic ABCC2-related disorder, ABCC2-related disorder
RS1054208254 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1054215531 PAX2 Health Risk Likely pathogenic Nephrotic syndrome, Nephrotic syndrome
RS1054228594 FRRS1L Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 37
RS1054247330 RSPH9 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1054264002 COL1A2 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta, Abnormality of the skeletal system
RS1054274808 MAP2K1 Health Risk Conflicting classifications of pathogenicity RASopathy, RASopathy
RS1054331 TUBB2A Health Risk Conflicting classifications of pathogenicity Complex cortical dysplasia with other brain malformations 5, Complex cortical dysplasia with other brain malformations 5
RS1054337797 RAI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, RAI1-related disorder
RS1054339656 FKRP Health Risk Conflicting classifications of pathogenicity Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype
RS1054346747 GABBR2 Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, Developmental and epileptic encephalopathy
RS1054385792 AARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2N, Charcot-Marie-Tooth disease type 2
RS1054389826 LTBP3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Brachyolmia-amelogenesis imperfecta syndrome
RS1054393061 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS1054399689 SHANK3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Congenital anomaly of kidney and urinary tract
RS1054429141 SLC12A6 Health Risk Pathogenic/Likely pathogenic Agenesis of the corpus callosum with peripheral neuropathy, Charcot-Marie-Tooth disease
RS1054458237 FANCD2 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS1054476083 LRIT3 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1F, Congenital stationary night blindness 1F
RS1054515897 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1054547392 POPDC3 Health Risk Pathogenic Muscular dystrophy, limb-girdle
RS1054551313 RBM20 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1DD
RS1054688954 MANBA Health Risk Pathogenic Beta-D-mannosidosis, Beta-D-mannosidosis
RS1054724641 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1054728914 CIB2 Health Risk Pathogenic —
RS1054774956 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, PKHD1-related disorder
RS1054796088 VHL Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Chuvash polycythemia
RS1054836015 KAT6B Health Risk Conflicting classifications of pathogenicity Blepharophimosis - intellectual disability syndrome, SBBYS type
RS1054840414 ALDH3A2 Health Risk Conflicting classifications of pathogenicity Sjögren-Larsson syndrome, Sjögren-Larsson syndrome
RS1054885736 NBEA Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1054894 TIMM8A Health Risk Pathogenic Deafness dystonia syndrome, Deafness dystonia syndrome
RS1054895 TIMM8A Health Risk Conflicting classifications of pathogenicity —
RS1054895701 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1054938291 AGA Health Risk Pathogenic/Likely pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria
RS1054950770 NPHS1 Health Risk Likely pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS1054974225 PHF6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, PHF6-related disorder
RS1054997754 MPV17 Health Risk Likely pathogenic Charcot-Marie-Tooth disease, axonal
RS1055019439 KLHL40 Health Risk Pathogenic Nemaline myopathy 8, Nemaline myopathy 8
RS1055082816 SDHA Health Risk Conflicting classifications of pathogenicity Mitochondrial complex II deficiency, nuclear type 1
RS1055095941 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS1055129064 ERCC3 Health Risk Pathogenic/Likely pathogenic Xeroderma pigmentosum group B, Trichothiodystrophy 2
RS1055164302 ELP1 Health Risk Conflicting classifications of pathogenicity Familial dysautonomia, Familial dysautonomia
RS1055175847 CDAN1 Health Risk Conflicting classifications of pathogenicity —
RS1055176086 CPT1A Health Risk Pathogenic/Likely pathogenic Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency
RS1055176338 CHRNG Health Risk Pathogenic Autosomal recessive multiple pterygium syndrome, Autosomal recessive multiple pterygium syndrome
RS1055180096 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1055204017 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS1055210725 CEBPA Health Risk Conflicting classifications of pathogenicity Acute myeloid leukemia, Inborn genetic diseases
RS1055237124 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS1055291520 ICOSLG Health Risk Conflicting classifications of pathogenicity —
RS1055318738 PDZD7 Health Risk Pathogenic/Likely pathogenic Hearing loss, autosomal recessive 57
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