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
RS1555618996 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS1555618999 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1555619001 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1555619029 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS1555619033 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS1555619041 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1555619051 NF1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS1555619052 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1555619056 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1555619372 MC2R Health Risk Pathogenic Glucocorticoid deficiency 1, Glucocorticoid deficiency 1
RS1555619377 MC2R Health Risk Pathogenic Glucocorticoid deficiency 1, Glucocorticoid deficiency 1
RS1555619391 NF1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS1555619395 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS1555619397 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1555619402 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1555619404 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1555619406 MC2R Health Risk Pathogenic Glucocorticoid Deficiency, Glucocorticoid deficiency 1
RS1555619407 NF1 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS1555619413 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1555619416 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1555619420 NF1 Health Risk Likely pathogenic Macrocephaly, Cafe-au-lait spot
RS1555619423 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1555619429 MC2R Health Risk Likely pathogenic Glucocorticoid Deficiency, Glucocorticoid Deficiency
RS1555619430 MC2R Health Risk Pathogenic Glucocorticoid deficiency 1, Glucocorticoid Deficiency
RS1555620021 FDXR Health Risk Pathogenic Auditory neuropathy-optic atrophy syndrome, Auditory neuropathy-optic atrophy syndrome
RS1555620092 SGSH Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-A
RS1555620141 SGSH Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-A
RS1555620214 SGSH Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-A
RS1555620827 SGSH Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-A
RS1555621138 PIEZO2 Health Risk Pathogenic Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome, Distal arthrogryposis
RS1555621397 NAGLU Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-B
RS1555621402 NAGLU Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-B
RS1555621425 SGSH Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-A
RS1555621432 NAGLU Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-B
RS1555621442 NAGLU Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-B
RS1555621448 NAGLU Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-B
RS1555621454 NAGLU Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-B
RS1555621659 SGSH Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-A
RS1555621662 SGSH Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-A
RS1555621971 SGSH Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-A
RS1555621984 SGSH Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-A
RS1555622000 NAGLU Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-B
RS1555622002 NAGLU Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-B
RS1555622019 NAGLU Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-B
RS1555622242 NAGLU Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-B
RS1555622250 NAGLU Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-B
RS1555622278 SMCHD1 Health Risk Conflicting classifications of pathogenicity Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS1555622310 SMCHD1 Health Risk Pathogenic —
RS1555622351 NAGLU Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-B
RS1555622354 NAGLU Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-B
RS1555622441 NAGLU Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-B
RS1555622443 NAGLU Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-B
RS1555622488 NAGLU Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-B
RS1555622505 NAGLU Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-B
RS1555622533 NAGLU Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-B
RS1555622545 NAGLU Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-B
RS1555622559 NAGLU Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-B
RS1555622888 SGSH Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-A
RS1555624080 SGSH Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-A
RS1555624111 SGSH Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-A
RS1555625363 TUBB3 Health Risk Conflicting classifications of pathogenicity Complex cortical dysplasia with other brain malformations 1, Fibrosis of extraocular muscles
RS1555625396 SMCHD1 Health Risk Pathogenic/Likely pathogenic Chédiak-Higashi syndrome, Cervical cancer
RS1555625571 TUBB3 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Complex cortical dysplasia with other brain malformations 1
RS1555625589 TUBB3 Health Risk Likely pathogenic —
RS1555627108 DSG2 Health Risk Pathogenic/Likely pathogenic Arrhythmogenic right ventricular dysplasia 10, Cardiovascular phenotype
RS1555627118 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular cardiomyopathy, Dilated cardiomyopathy 1BB
RS1555627787 USH1G Health Risk Pathogenic Usher syndrome type 1, Usher syndrome type 1
RS1555628831 GATA6 Health Risk Pathogenic —
RS1555628863 GATA6 Health Risk Pathogenic Pancreatic hypoplasia-diabetes-congenital heart disease syndrome, Abnormal cardiovascular system morphology
RS1555629022 SOX9 Health Risk Pathogenic Camptomelic dysplasia, Camptomelic dysplasia
RS1555629028 SOX9 Health Risk Likely pathogenic —
RS1555629037 SOX9 Health Risk Pathogenic Camptomelic dysplasia, Camptomelic dysplasia
RS1555629043 SOX9 Health Risk Likely pathogenic —
RS1555629158 SOX9 Health Risk Pathogenic Camptomelic dysplasia, Camptomelic dysplasia
RS1555629169 SOX9 Health Risk Likely pathogenic Neoplasm, Neoplasm
RS1555629170 SOX9 Health Risk Pathogenic Camptomelic dysplasia, Camptomelic dysplasia
RS1555629195 SOX9 Health Risk Pathogenic —
RS1555629290 SOX9 Health Risk Pathogenic —
RS1555629370 SOX9 Health Risk Likely pathogenic —
RS1555629374 SOX9 Health Risk Pathogenic —
RS1555629443 SOX9 Health Risk Pathogenic Camptomelic dysplasia, Camptomelic dysplasia
RS1555630216 PIEZO2 Health Risk Pathogenic Arthrogryposis, distal
RS1555630396 CDH2 Health Risk Likely pathogenic Cerebral arteriovenous malformation, Cerebral arteriovenous malformation
RS1555631383 TUBG1 Health Risk Conflicting classifications of pathogenicity Lissencephaly, Lissencephaly
RS1555631387 TTR Health Risk Pathogenic Amyloidosis, hereditary systemic 1
RS1555631390 TTR Health Risk Pathogenic Amyloidosis, hereditary systemic 1
RS1555631393 TTR Health Risk Pathogenic Amyloidosis, hereditary systemic 1
RS1555631402 TTR Health Risk Pathogenic/Likely pathogenic Amyloidosis, hereditary systemic 1
RS1555631417 TTR Health Risk Conflicting classifications of pathogenicity Amyloidosis, hereditary systemic 1
RS1555631467 TUBG1 Health Risk Conflicting classifications of pathogenicity Complex cortical dysplasia with other brain malformations 4, Complex cortical dysplasia with other brain malformations 4
RS1555631571 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS1555631610 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS1555631642 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS1555631653 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS1555631888 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS1555631957 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS1555631982 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS1555631998 NPC1 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type C1
RS1555632003 NPC1 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type C1
RS1555632121 HOXB1 Health Risk Pathogenic Facial paresis, hereditary congenital
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