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
RS2142300348 PALB2 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2142300433 PALB2 Health Risk Pathogenic Fanconi anemia complementation group N, Fanconi anemia complementation group N
RS2142300893 ZNF469 Health Risk Likely pathogenic —
RS2142301692 ZNF469 Health Risk Pathogenic —
RS2142303290 MYH2 Health Risk Likely pathogenic —
RS2142303605 MYH2 Health Risk Pathogenic Myopathy, proximal
RS2142303932 ZNF469 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Ehlers-Danlos syndrome
RS2142304720 ZNF469 Health Risk Likely pathogenic Brittle cornea syndrome 1, Brittle cornea syndrome 1
RS2142305450 MYH2 Health Risk Pathogenic Myopathy, proximal
RS2142305562 MYH2 Health Risk Likely pathogenic Myopathy, proximal
RS2142307505 MYO15A Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS2142309612 MYH2 Health Risk Pathogenic Myopathy, proximal
RS2142312393 ZNF469 Health Risk Pathogenic/Likely pathogenic Brittle cornea syndrome 1, Brittle cornea syndrome 1
RS2142314304 ZNF469 Health Risk Pathogenic Brittle cornea syndrome 1, Brittle cornea syndrome 1
RS2142314561 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS2142314789 EPB42 Health Risk Likely pathogenic Hereditary spherocytosis type 5, Hereditary spherocytosis type 5
RS2142315607 MYO15A Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS2142315894 MYO15A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS2142318412 MYH2 Health Risk Likely pathogenic Myopathy, proximal
RS2142319855 MYH2 Health Risk Likely pathogenic Myopathy, proximal
RS2142325910 PALB2 Health Risk Likely pathogenic Pancreatic cancer, susceptibility to
RS2142325956 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2142326062 MYO15A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS2142326183 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2142326522 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2142326602 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2142326815 PALB2 Health Risk Likely pathogenic Breast carcinoma, Breast carcinoma
RS2142327117 PALB2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2142327301 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2142328201 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS2142328321 PALB2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2142328421 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2142330705 MYO15A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS2142330998 MYO15A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS2142334166 PALB2 Health Risk Likely pathogenic —
RS2142334914 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2142334934 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2142335605 MYO15A Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS2142336574 MYO15A Health Risk Pathogenic —
RS2142337034 PALB2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2142341338 MYO15A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS2142341398 MYO15A Health Risk Pathogenic —
RS2142343280 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2142343437 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2142343642 MYO15A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS2142344237 PALB2 Health Risk Pathogenic Familial cancer of breast, Hereditary breast ovarian cancer syndrome
RS2142347739 MYO15A Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS2142349089 MMP2 Health Risk Pathogenic Multicentric osteolysis nodulosis arthropathy spectrum, Multicentric osteolysis nodulosis arthropathy spectrum
RS2142353165 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2142353580 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2142353661 MMP2 Health Risk Pathogenic Multicentric osteolysis nodulosis arthropathy spectrum, Multicentric osteolysis nodulosis arthropathy spectrum
RS2142353982 IRX5 Health Risk Pathogenic Craniofacial dysplasia - osteopenia syndrome, Craniofacial dysplasia - osteopenia syndrome
RS2142354911 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2142355107 MYO15A Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS2142355316 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2142355636 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2142356386 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2142356956 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Familial cancer of breast
RS2142358692 MMP2 Health Risk Pathogenic Multicentric osteolysis, nodulosis
RS2142358933 MMP2 Health Risk Pathogenic Multicentric osteolysis, nodulosis
RS2142360420 MYO15A Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS2142360575 MYO15A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS2142362830 MYO15A Health Risk Likely pathogenic —
RS2142363190 MYO15A Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS2142363296 MYO15A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS2142364249 MYO15A Health Risk Pathogenic —
RS2142364275 CLCN7 Health Risk Conflicting classifications of pathogenicity Autosomal dominant osteopetrosis 2, Autosomal recessive osteopetrosis 4
RS2142365554 CLCN7 Health Risk Likely pathogenic —
RS2142366086 CLCN7 Health Risk Pathogenic —
RS2142366092 CLCN7 Health Risk Pathogenic Autosomal dominant osteopetrosis 2, Autosomal dominant osteopetrosis 2
RS2142366157 CLCN7 Health Risk Likely pathogenic Disorder of bone, Disorder of bone
RS2142367705 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2142367858 PALB2 Health Risk Pathogenic/Likely pathogenic Malignant tumor of breast, Familial cancer of breast
RS2142368283 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2142368459 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2142368508 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2142368926 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2142368980 CLCN7 Health Risk Likely pathogenic Autosomal recessive osteopetrosis 4, Autosomal recessive osteopetrosis 4
RS2142369409 MYO15A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS2142370409 MYO15A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS2142370684 MYO15A Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS2142371207 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2142372943 CLCN7 Health Risk Pathogenic —
RS2142373200 KIF22 Health Risk Likely pathogenic Spondyloepimetaphyseal dysplasia with multiple dislocations, Spondyloepimetaphyseal dysplasia with multiple dislocations
RS2142373865 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2142374295 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2142374547 CLCN7 Health Risk Likely pathogenic —
RS2142374794 PALB2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2142374907 PALB2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2142376390 MYO15A Health Risk Pathogenic Papillary renal cell carcinoma type 1, Papillary renal cell carcinoma type 1
RS2142377240 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2142377985 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2142377997 MYO15A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS2142378398 CLCN7 Health Risk Likely pathogenic Autosomal dominant osteopetrosis 2, Hypopigmentation
RS2142378539 CLCN7 Health Risk Likely pathogenic Autosomal dominant osteopetrosis 2, Autosomal dominant osteopetrosis 2
RS2142379081 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2142379245 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2142379352 CLCN7 Health Risk Conflicting classifications of pathogenicity —
RS2142379446 MYO15A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS2142379886 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
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