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
RS1188686549 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS1188692048 KIF5A Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS1188694060 PDX1 Health Risk Uncertain risk allele Pancreatic hypoplasia, Pancreatic hypoplasia
RS1188709614 BRDT Health Risk Pathogenic Premature ovarian failure, Premature ovarian failure
RS11887534 ABCG5;ABCG8 Health Risk Benign/Likely benign; association Gallbladder disease 4, Sitosterolemia
RS1188753950 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS1188755325 PALB2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1188757026 CBL Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, RASopathy
RS1188760861 ERCC8 Health Risk Likely pathogenic Cockayne syndrome type 1, Cockayne syndrome type 1
RS11887722 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1188774860 ACSF3 Health Risk Pathogenic/Likely pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS1188776082 ATR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1188804374 MEGF10 Health Risk Conflicting classifications of pathogenicity MEGF10-related myopathy, MEGF10-related myopathy
RS1188811827 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS1188823834 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS1188823925 COL4A1 Health Risk Pathogenic —
RS1188834464 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1188835973 PIGN Health Risk Pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS1188844823 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS1188846190 LRP2 Health Risk Conflicting classifications of pathogenicity —
RS11888704 HPCAL1 Health Risk association Vascular endothelial growth factor (VEGF) inhibitor response, Vascular endothelial growth factor (VEGF) inhibitor response
RS1188885214 HEXA Health Risk Pathogenic Tay-Sachs disease, Tay-Sachs disease
RS1188895680 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1188916145 TCF4 Health Risk Likely pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS1188933026 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1188943579 LZTR1 Health Risk Pathogenic/Likely pathogenic LZTR1-related disorder, LZTR1-related disorder
RS1188949540 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1188975716 ADAM9 Health Risk Pathogenic —
RS11889925 ALMS1 Health Risk Conflicting classifications of pathogenicity Monogenic diabetes, Alstrom syndrome
RS1189004291 GRM6 Health Risk Pathogenic —
RS1189009603 MYBPC3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS1189015572 LZTR1 Health Risk Likely pathogenic Noonan syndrome 10, LZTR1-related schwannomatosis
RS1189024951 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS1189025914 HAMP Health Risk Pathogenic Hemochromatosis type 2B, Hemochromatosis type 2B
RS1189027155 AP5Z1 Health Risk Pathogenic Hereditary spastic paraplegia 48, Hereditary spastic paraplegia 48
RS1189039397 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS1189054127 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS1189071165 COL7A1 Health Risk Conflicting classifications of pathogenicity Recessive dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa
RS1189095338 COL4A3 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Alport syndrome
RS1189098622 PEX6 Health Risk Pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS1189106357 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1189108407 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Cystic fibrosis
RS1189111600 MED12 Health Risk Conflicting classifications of pathogenicity MED12-related disorder, FG syndrome
RS1189127007 MSH2 Health Risk Conflicting classifications of pathogenicity Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1189134560 ABCA12 Health Risk Likely pathogenic —
RS1189153218 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS1189155420 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1189167614 STRC Health Risk Pathogenic Nonsyndromic genetic hearing loss, Nonsyndromic genetic hearing loss
RS11891778 ABCA12 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 4B, Autosomal recessive congenital ichthyosis 4A
RS1189201208 COQ9 Health Risk Conflicting classifications of pathogenicity Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome, Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
RS1189203530 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1189206125 GRM6 Health Risk Conflicting classifications of pathogenicity —
RS1189219556 MMUT Health Risk Pathogenic —
RS1189239082 TSC1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 1
RS1189241211 WT1 Health Risk Conflicting classifications of pathogenicity Drash syndrome, Frasier syndrome
RS1189248208 KANSL1 Health Risk Conflicting classifications of pathogenicity Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS1189252877 ALG13 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 36
RS1189289587 CSPP1 Health Risk Pathogenic Joubert syndrome 21, Joubert syndrome 21
RS1189294231 CC2D2A Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS1189298981 MTRR Health Risk Likely pathogenic Methylcobalamin deficiency type cblE, Neural tube defects
RS1189313564 FKRP Health Risk Pathogenic —
RS11893228 OTOF Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS1189324317 PLOD1 Health Risk Pathogenic Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS1189348665 F8 Health Risk Conflicting classifications of pathogenicity Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease
RS1189355322 PCCB Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS1189364625 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS1189366704 YY1 Health Risk Pathogenic Gabriele de Vries syndrome, Gabriele de Vries syndrome
RS1189374970 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS1189377616 CFTR Health Risk Pathogenic Cystic fibrosis, CFTR-related disorder
RS1189377845 PROC Health Risk Pathogenic Thrombophilia due to protein C deficiency, autosomal dominant
RS1189379541 ACTB Health Risk Conflicting classifications of pathogenicity Baraitser-Winter syndrome 1, Inborn genetic diseases
RS1189381456 CPT1A Health Risk Likely pathogenic Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency
RS1189382722 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS1189399471 ASPM Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1189432427 ABCC9 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1O, Cardiovascular phenotype
RS1189450557 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1189454389 CNGB1 Health Risk Pathogenic —
RS1189469219 SGCE Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS1189478751 C2CD3 Health Risk Likely pathogenic See cases, See cases
RS1189479619 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS1189502123 COL4A4 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Hematuria
RS1189512943 WFS1 Health Risk Pathogenic Wolfram syndrome 1, Wolfram syndrome 1
RS1189520104 TCIRG1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1
RS1189529370 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1189538200 IGHMBP2 Health Risk Pathogenic Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS1189539018 PIKFYVE Health Risk Likely pathogenic —
RS1189543766 LRIG2 Health Risk Pathogenic —
RS1189551206 SIK1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 30
RS1189557869 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1189568492 CTSA Health Risk Pathogenic/Likely pathogenic Combined deficiency of sialidase AND beta galactosidase, Combined deficiency of sialidase AND beta galactosidase
RS1189607438 COL4A3 Health Risk Pathogenic Inborn genetic diseases, Alport syndrome
RS1189622818 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS1189623251 PMM2 Health Risk Pathogenic/Likely pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS1189625999 PIEZO2 Health Risk Likely pathogenic Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome, Gordon syndrome
RS1189630738 G6PC1 Health Risk Pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS1189644919 TERT Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 2
RS1189650128 FOXRED1 Health Risk Pathogenic Leigh syndrome, Leigh syndrome
RS1189678912 CEP104 Health Risk Likely pathogenic Joubert syndrome and related disorders, Joubert syndrome and related disorders
RS1189683846 TERT Health Risk Conflicting classifications of pathogenicity Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita
RS1189685462 F5 Health Risk Pathogenic Congenital factor V deficiency, Congenital factor V deficiency
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