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
RS144995033 TRIOBP Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 28, TRIOBP-related disorder
RS144995231 FGFR3 Health Risk Conflicting classifications of pathogenicity —
RS1449954533 LYST Health Risk Pathogenic/Likely pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS1449962580 CYP27A1 Health Risk Pathogenic/Likely pathogenic Cholestanol storage disease, Cholestanol storage disease
RS1449966934 COG5 Health Risk Pathogenic COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation
RS144996870 RINT1 Health Risk Conflicting classifications of pathogenicity —
RS144996877 ALOXE3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1449972974 CC2D2A Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS1449980834 CYP4F22 Health Risk Likely pathogenic Autosomal recessive congenital ichthyosis 5, Autosomal recessive congenital ichthyosis 5
RS144998416 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, Acute febrile neutrophilic dermatosis
RS144999144 RP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS144999773 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Tetralogy of Fallot
RS1449998297 SLC37A4 Health Risk Likely pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS1449999247 TUBGCP2 Health Risk Conflicting classifications of pathogenicity Pachygyria, microcephaly
RS1450008394 AAAS Health Risk Pathogenic Glucocorticoid deficiency with achalasia, Glucocorticoid deficiency with achalasia
RS145000912 GYG2 Health Risk Conflicting classifications of pathogenicity —
RS145001056 LTBP3 Health Risk Conflicting classifications of pathogenicity Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome
RS145001300 ADGRG1 Health Risk Conflicting classifications of pathogenicity Bilateral frontoparietal polymicrogyria, Inborn genetic diseases
RS145002269 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS145002466 VDR Health Risk Conflicting classifications of pathogenicity VDR-related disorder, VDR-related disorder
RS145003411 SLC12A1 Health Risk Conflicting classifications of pathogenicity Bartter disease type 1, Bartter disease type 1
RS1450037999 PROC Health Risk Pathogenic/Likely pathogenic Thrombophilia due to protein C deficiency, autosomal dominant
RS145003921 COL10A1 Health Risk Conflicting classifications of pathogenicity Metaphyseal chondrodysplasia, Schmid type
RS145004106 TTN Health Risk Conflicting classifications of pathogenicity —
RS1450044732 LZTR1 Health Risk Likely pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS1450045618 BBS1 Health Risk Likely pathogenic Bardet-Biedl syndrome 1, Bardet-Biedl syndrome 1
RS1450046707 MALT1 Health Risk Likely pathogenic Combined immunodeficiency due to MALT1 deficiency, Uterine corpus endometrial carcinoma
RS1450052915 COL4A4 Health Risk Conflicting classifications of pathogenicity Hematuria, benign familial
RS145005596 NHS Health Risk Conflicting classifications of pathogenicity Nance-Horan syndrome, Inborn genetic diseases
RS145006217 DMXL2 Health Risk Conflicting classifications of pathogenicity Hearing loss, autosomal dominant 71
RS145006535 SLC35A1 Health Risk Conflicting classifications of pathogenicity SLC35A1-congenital disorder of glycosylation, SLC35A1-related disorder
RS145007061 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS145007501 AXIN2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome
RS145007645 ACD Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 6
RS145007686 BBS9 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS145008882 DNAAF2 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 10, Primary ciliary dyskinesia
RS145009013 SCN5A Health Risk Conflicting classifications of pathogenicity Brugada syndrome 1, Long QT syndrome 3
RS1450090350 DPAGT1 Health Risk Likely pathogenic DPAGT1-congenital disorder of glycosylation, DPAGT1-congenital disorder of glycosylation
RS145009419 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1450097151 ADAMTS2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type
RS1450097579 HYAL1 Health Risk Pathogenic Deficiency of hyaluronoglucosaminidase, Deficiency of hyaluronoglucosaminidase
RS145010538 PSEN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1V, Alzheimer disease 4
RS1450111961 CYP27B1 Health Risk Pathogenic Vitamin D-dependent rickets, type 1A
RS145012001 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS1450121966 KMT2B Health Risk Conflicting classifications of pathogenicity Intellectual disability, Inborn genetic diseases
RS1450125094 ABCA1 Health Risk Likely pathogenic Early-onset coronary artery disease, Early-onset coronary artery disease
RS145012943 ARID1B Health Risk Conflicting classifications of pathogenicity —
RS1450133957 ALDH7A1 Health Risk Likely pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS145013523 CCDC40 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 15
RS145013633 USH1C Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A
RS145014649 MAK Health Risk Conflicting classifications of pathogenicity —
RS1450151864 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS145015653 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, Acute febrile neutrophilic dermatosis
RS145015947 RANBP17 Health Risk Conflicting classifications of pathogenicity —
RS145016043 ADAMTS2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type
RS1450163641 ARID1B Health Risk Conflicting classifications of pathogenicity Coffin-Siris syndrome 1, Inborn genetic diseases
RS145017164 PCDH15 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 23, Usher syndrome type 1D
RS1450177088 ERCC2 Health Risk Pathogenic —
RS1450178339 TG Health Risk Pathogenic —
RS145018253 CPLANE1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 17, Joubert syndrome 17
RS145018323 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS145018385 TGM6 Health Risk Conflicting classifications of pathogenicity —
RS1450189213 ST3GAL5 Health Risk Pathogenic GM3 synthase deficiency, GM3 synthase deficiency
RS1450189463 CEP290 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS1450190162 ADAMTS17 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani 4 syndrome, recessive
RS1450190654 BBS12 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 12, Bardet-Biedl syndrome
RS145019640 OTOF Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, OTOF-related disorder
RS145019788 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Idiopathic hypereosinophilic syndrome
RS145020225 WNK4 Health Risk Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2B, Inborn genetic diseases
RS145020363 IL6ST Health Risk Conflicting classifications of pathogenicity —
RS145021638 LPIN1 Health Risk Conflicting classifications of pathogenicity Myoglobinuria, acute recurrent
RS145021738 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS1450218521 ALPK3 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS1450223894 PYCR2 Health Risk Conflicting classifications of pathogenicity Hypomyelinating leukodystrophy 10, Hypomyelinating leukodystrophy 10
RS1450225029 TCF20 Health Risk Conflicting classifications of pathogenicity Developmental delay with variable intellectual impairment and behavioral abnormalities, Inborn genetic diseases
RS145022945 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS145023130 NDUFS1 Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Mitochondrial complex I deficiency
RS1450238352 XPC Health Risk Pathogenic Xeroderma pigmentosum, group C
RS145023922 COL2A1 Health Risk Conflicting classifications of pathogenicity —
RS1450240396 POT1 Health Risk Conflicting classifications of pathogenicity Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS145024832 EXT2 Health Risk Conflicting classifications of pathogenicity Exostoses, multiple
RS145025745 NBAS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1450257625 SACS Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS145026721 GJA3 Health Risk Conflicting classifications of pathogenicity Cataract 14 multiple types, Inborn genetic diseases
RS145027663 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS1450277471 BLM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Bloom syndrome
RS1450281991 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS145028315 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS1450284892 PUS1 Health Risk Likely pathogenic —
RS145028869 KMT2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS145029382 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS1450294572 PIKFYVE Health Risk Likely pathogenic PIKFYVE-related disorder, PIKFYVE-related disorder
RS1450297382 POMT2 Health Risk Pathogenic/Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS145029761 VCAN Health Risk Conflicting classifications of pathogenicity Vitreoretinopathy, Wagner disease
RS145029982 SLC34A3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive hypophosphatemic bone disease, SLC34A3-related disorder
RS1450302081 CA2 Health Risk Likely pathogenic CA2-related disorder, CA2-related disorder
RS1450310137 DOCK7 Health Risk Pathogenic Developmental and epileptic encephalopathy, 23
RS1450314617 MSH3 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 4
RS145031583 AFF4 Health Risk Conflicting classifications of pathogenicity Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome, Inborn genetic diseases
RS145031656 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
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