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
RS1554032155 ARSB Health Risk Pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1554032160 ARSB Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1554032175 ARSB Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1554032196 ARSB Health Risk Pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1554032205 ARSB Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1554032216 ARSB Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1554032217 ARSB Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1554032220 ARSB Health Risk Pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1554032222 ARSB Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1554032243 ARSB Health Risk Pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1554032252 ARSB Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1554032266 NIPBL Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS1554032789 NIPBL Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS1554032826 NIPBL Health Risk Pathogenic —
RS1554032954 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS1554033395 NIPBL Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS1554033750 SLC6A19 Health Risk Likely pathogenic —
RS1554033855 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1554033862 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1554033904 PDE4D Health Risk Likely pathogenic —
RS1554033934 PDE4D Health Risk Conflicting classifications of pathogenicity Acrodysostosis 2 with or without hormone resistance, Acrodysostosis 2 with or without hormone resistance
RS1554034036 MAP3K1 Health Risk Pathogenic 46, XY sex reversal 6
RS1554034423 HEXB Health Risk Likely pathogenic Sandhoff disease, Sandhoff disease
RS1554034434 HEXB Health Risk Pathogenic Sandhoff disease, Sandhoff disease
RS1554034447 HEXB Health Risk Likely pathogenic Sandhoff disease, Sandhoff disease
RS1554034449 HEXB Health Risk Likely pathogenic Sandhoff disease, Sandhoff disease
RS1554034452 HEXB Health Risk Pathogenic Sandhoff disease, Sandhoff disease
RS1554034505 HEXB Health Risk Likely pathogenic Sandhoff disease, Sandhoff disease
RS1554034812 NIPBL Health Risk Pathogenic Cleft palate, Tetralogy of Fallot
RS1554035266 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS1554035308 HEXB Health Risk Likely pathogenic Sandhoff disease, Sandhoff disease
RS1554035311 NIPBL Health Risk Likely pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS1554035316 NIPBL Health Risk Pathogenic —
RS1554035330 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1554035469 FGF10 Health Risk Likely pathogenic Levy-Hollister syndrome, Levy-Hollister syndrome
RS1554035473 FGF10 Health Risk Likely pathogenic —
RS1554035757 FGF10 Health Risk Likely pathogenic Levy-Hollister syndrome, Levy-Hollister syndrome
RS1554035763 FGF10 Health Risk Likely pathogenic Levy-Hollister syndrome, Levy-Hollister syndrome
RS1554035822 HEXB Health Risk Likely pathogenic Sandhoff disease, Sandhoff disease
RS1554036165 NIPBL Health Risk Pathogenic —
RS1554036216 NIPBL Health Risk Likely pathogenic —
RS1554036523 HEXB Health Risk Likely pathogenic Sandhoff disease, Sandhoff disease
RS1554036638 HEXB Health Risk Likely pathogenic Sandhoff disease, Sandhoff disease
RS1554036641 HEXB Health Risk Pathogenic/Likely pathogenic Sandhoff disease, Sandhoff disease
RS1554036943 HEXB Health Risk Pathogenic Sandhoff disease, Sandhoff disease
RS1554037076 HEXB Health Risk Likely pathogenic Sandhoff disease, Sandhoff disease
RS1554037088 HEXB Health Risk Pathogenic Sandhoff disease, adult form
RS1554037120 HEXB Health Risk Likely pathogenic Sandhoff disease, Sandhoff disease
RS1554037129 HEXB Health Risk Pathogenic Sandhoff disease, Sandhoff disease
RS1554037137 HEXB Health Risk Pathogenic Sandhoff disease, Sandhoff disease
RS1554037170 HEXB Health Risk Pathogenic/Likely pathogenic Sandhoff disease, Sandhoff disease
RS1554037381 HCN1 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1554038048 TERT Health Risk Conflicting classifications of pathogenicity Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS1554038257 TERT Health Risk Pathogenic Dyskeratosis congenita, autosomal dominant 2
RS1554038539 TERT Health Risk Pathogenic/Likely pathogenic Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS1554038803 TERT Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 2
RS1554038827 RASA1 Health Risk Pathogenic —
RS1554038957 CERT1 Health Risk Likely pathogenic —
RS1554039069 CERT1 Health Risk Pathogenic —
RS1554039568 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1554039692 PDE4D Health Risk Likely pathogenic —
RS1554039733 TERT Health Risk Conflicting classifications of pathogenicity Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS1554040120 HCN1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 24
RS1554040129 TERT Health Risk Conflicting classifications of pathogenicity Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita
RS1554040360 FGF10 Health Risk Likely pathogenic —
RS1554040361 FGF10 Health Risk Likely pathogenic Levy-Hollister syndrome, Levy-Hollister syndrome
RS1554040364 FGF10 Health Risk Likely pathogenic Levy-Hollister syndrome, Levy-Hollister syndrome
RS1554040396 FGF10 Health Risk Likely pathogenic Levy-Hollister syndrome, Levy-Hollister syndrome
RS1554040858 GHR Health Risk Pathogenic Laron-type isolated somatotropin defect, Laron-type isolated somatotropin defect
RS1554040964 TERT Health Risk Pathogenic Hepatocellular carcinoma, Hepatocellular carcinoma
RS1554041095 TERT Health Risk Pathogenic Dyskeratosis congenita, autosomal dominant 2
RS1554041295 ZSWIM6 Health Risk Pathogenic/Likely pathogenic ZSWIM6 related intellectual disability, Neurodevelopmental disorder with movement abnormalities
RS1554041299 TERT Health Risk Likely risk allele Dyskeratosis congenita, autosomal dominant 1
RS1554041457 ZSWIM6 Health Risk Likely pathogenic —
RS1554042042 TTN Health Risk Likely pathogenic —
RS1554042050 KIF2A Health Risk Pathogenic/Likely pathogenic Complex cortical dysplasia with other brain malformations 3, Complex cortical dysplasia with other brain malformations 3
RS1554042187 GFM2 Health Risk Pathogenic Mitochondrial disease, Combined oxidative phosphorylation deficiency 39
RS1554042799 TERT Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 2
RS1554042899 TERT Health Risk Pathogenic Pulmonary fibrosis, Dyskeratosis congenita
RS1554042911 TERT Health Risk Conflicting classifications of pathogenicity Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita
RS1554043041 TERT Health Risk Pathogenic Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS1554043083 TERT Health Risk Conflicting classifications of pathogenicity Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita
RS1554043088 TERT Health Risk Pathogenic Hepatocellular carcinoma, Hepatocellular carcinoma
RS1554043093 TERT Health Risk Pathogenic Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita
RS1554043134 TERT Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 2
RS1554043139 TERT Health Risk Pathogenic Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita
RS1554044823 RASA1 Health Risk Pathogenic Basal cell carcinoma, susceptibility to
RS1554045819 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation 1, Capillary malformation-arteriovenous malformation 1
RS1554046316 MARVELD2 Health Risk Likely pathogenic —
RS1554046915 CTNND2 Health Risk Likely pathogenic —
RS1554047435 ZFYVE16 Health Risk Likely pathogenic Cerebral arteriovenous malformation, Cerebral arteriovenous malformation
RS1554047946 RASA1 Health Risk Likely pathogenic —
RS1554047949 RASA1 Health Risk Pathogenic —
RS1554048056 RASA1 Health Risk Likely pathogenic —
RS1554048061 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome
RS1554048066 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome
RS1554048616 CERT1 Health Risk Pathogenic Intellectual disability, autosomal dominant 34
RS1554049087 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1554049237 RASA1 Health Risk Likely pathogenic —
RS1554049394 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation 1
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