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
RS199422150 ASPM Health Risk Likely pathogenic —
RS199422151 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS199422152 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS199422153 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS199422155 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS199422157 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS199422159 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS199422160 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS199422161 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS199422163 ASPM Health Risk Conflicting classifications of pathogenicity Microcephaly 5, primary
RS199422164 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS199422165 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS199422168 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS199422169 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS199422172 ASPM Health Risk Pathogenic/Likely pathogenic Microcephaly 5, primary
RS199422173 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS199422174 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS199422177 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS199422180 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS199422184 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS199422185 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS199422186 ASPM Health Risk Likely pathogenic Microcephaly 5, primary
RS199422187 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS199422189 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS199422192 ASPM Health Risk Likely pathogenic Microcephaly 5, primary
RS199422194 ASPM Health Risk Pathogenic/Likely pathogenic Microcephaly 5, primary
RS199422195 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS199422196 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS199422197 ASPM Health Risk Likely pathogenic Microcephaly 5, primary
RS199422198 ASPM Health Risk Pathogenic —
RS199422199 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS199422202 CPAP Health Risk Pathogenic Microcephaly 6, primary
RS199422203 CPAP Health Risk Pathogenic/Likely pathogenic Microcephaly 6, primary
RS199422206 STIL Health Risk Pathogenic Microcephaly 7, primary
RS199422207 STIL Health Risk Pathogenic Microcephaly 7, primary
RS199422209 SERPINA1 Health Risk Pathogenic/Likely pathogenic PI M(HEERLEN), Alpha-1-antitrypsin deficiency
RS199422210 SERPINA1 Health Risk Conflicting classifications of pathogenicity Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency
RS199422211 SERPINA1 Health Risk Pathogenic PI NULL(BELLINGHAM), PI Q0(BELLINGHAM)
RS199422214 NEFL Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 1F, Charcot-Marie-Tooth disease type 2E
RS199422216 NIPAL4 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 6, Lamellar ichthyosis
RS199422217 NIPAL4 Health Risk Pathogenic/Likely pathogenic Autosomal recessive congenital ichthyosis 6, Autosomal recessive congenital ichthyosis
RS199422219 MTTP Health Risk Pathogenic Abetalipoproteinaemia, MTTP-related disorder
RS199422220 MTTP Health Risk Pathogenic/Likely pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS199422221 MTTP Health Risk Pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS199422222 MTTP Health Risk Pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS199422224 NDUFS1 Health Risk Pathogenic Mitochondrial complex I deficiency, nuclear type 5
RS199422225 NDUFS1 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 5
RS199422227 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS199422228 IDS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-II
RS199422229 IDS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-II
RS199422230 IDS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-II
RS199422231 IDS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, type II
RS199422232 PIGA Health Risk Likely pathogenic Paroxysmal nocturnal hemoglobinuria, Paroxysmal nocturnal hemoglobinuria
RS199422233 PIGA Health Risk Pathogenic Paroxysmal nocturnal hemoglobinuria, Paroxysmal nocturnal hemoglobinuria
RS199422234 KDM5C Health Risk Pathogenic Syndromic X-linked intellectual disability Claes-Jensen type, Syndromic X-linked intellectual disability Claes-Jensen type
RS199422235 KDM5C Health Risk Likely pathogenic Syndromic X-linked intellectual disability Claes-Jensen type, Inborn genetic diseases
RS199422236 KDM5C Health Risk Pathogenic Syndromic X-linked intellectual disability Claes-Jensen type, Syndromic X-linked intellectual disability Claes-Jensen type
RS199422237 KDM5C Health Risk Pathogenic Syndromic X-linked intellectual disability Claes-Jensen type, Syndromic X-linked intellectual disability Claes-Jensen type
RS199422238 KDM5C Health Risk Pathogenic Syndromic X-linked intellectual disability Claes-Jensen type, Syndromic X-linked intellectual disability Claes-Jensen type
RS199422239 KDM5C Health Risk Likely pathogenic Syndromic X-linked intellectual disability Claes-Jensen type, Inborn genetic diseases
RS199422240 ZNF711 Health Risk Pathogenic Intellectual disability, X-linked 97
RS199422241 DKC1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, X-linked
RS199422245 DKC1 Health Risk Likely pathogenic Dyskeratosis congenita, X-linked
RS199422252 DKC1 Health Risk Pathogenic Dyskeratosis congenita, X-linked
RS199422254 DKC1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, X-linked
RS199422255 TERC Health Risk Pathogenic Dyskeratosis congenita, autosomal dominant 1
RS199422256 LOC110806306 Health Risk Pathogenic Paroxysmal nocturnal hemoglobinuria 1, Paroxysmal nocturnal hemoglobinuria 1
RS199422257 LOC110806306;TERC Health Risk Pathogenic Dyskeratosis congenita, autosomal dominant 1
RS199422259 LOC110806306;TERC Health Risk Pathogenic Aplastic anemia, Aplastic anemia
RS199422262 LOC110806306;TERC Health Risk Pathogenic Dyskeratosis congenita, autosomal dominant 1
RS199422263 TERC Health Risk Pathogenic Dyskeratosis congenita, autosomal dominant 1
RS199422264 TERC Health Risk Pathogenic Dyskeratosis congenita, autosomal dominant 1
RS199422265 TERC Health Risk Pathogenic Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS199422266 TERC Health Risk Pathogenic Dyskeratosis congenita, autosomal dominant 1
RS199422267 TERC Health Risk Pathogenic Dyskeratosis congenita, autosomal dominant 1
RS199422268 TERC Health Risk Pathogenic Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS199422269 LOC110806306;TERC Health Risk Pathogenic Dyskeratosis congenita, autosomal dominant 1
RS199422270 TERC Health Risk Pathogenic Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS199422272 TERC Health Risk Conflicting classifications of pathogenicity Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS199422273 LOC110806306;TERC Health Risk Pathogenic Aplastic anemia, Aplastic anemia
RS199422274 TERC Health Risk Pathogenic Dyskeratosis congenita, autosomal dominant 1
RS199422275 LOC110806306;TERC Health Risk Pathogenic Aplastic anemia, Aplastic anemia
RS199422276 TERC Health Risk Conflicting classifications of pathogenicity Aplastic anemia, Dyskeratosis congenita
RS199422277 TERC Health Risk Pathogenic Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS199422278 LOC110806306;TERC Health Risk Pathogenic Dyskeratosis congenita, autosomal dominant 1
RS199422279 LOC110806306;TERC Health Risk Pathogenic Aplastic anemia, Aplastic anemia
RS199422280 LOC110806306;TERC Health Risk Pathogenic Aplastic anemia, Aplastic anemia
RS199422281 LOC110806306;TERC Health Risk Pathogenic Aplastic anemia, Aplastic anemia
RS199422283 TERC Health Risk Pathogenic Aplastic anemia, Aplastic anemia
RS199422284 TERC Health Risk Pathogenic Dyskeratosis congenita, autosomal dominant 1
RS199422289 TERT Health Risk Likely risk allele Interstitial lung disease 2, Pulmonary fibrosis
RS199422291 TERT Health Risk Conflicting classifications of pathogenicity Interstitial lung disease 2, Pulmonary fibrosis
RS199422293 TERT Health Risk Conflicting classifications of pathogenicity Interstitial lung disease 2, Pulmonary fibrosis and/or bone marrow failure
RS199422294 TERT Health Risk Pathogenic Dyskeratosis congenita, autosomal dominant 2
RS199422297 TERT Health Risk Pathogenic/Likely pathogenic Autosomal recessive dyskeratosis congenita 4, Dyskeratosis congenita
RS199422298 TERT Health Risk Likely pathogenic Aplastic anemia, Idiopathic Pulmonary Fibrosis
RS199422300 TERT Health Risk Pathogenic Interstitial lung disease 2, Pulmonary fibrosis and/or bone marrow failure
RS199422301 TERT Health Risk Conflicting classifications of pathogenicity Autosomal recessive dyskeratosis congenita 4, Dyskeratosis congenita
RS199422304 TERT Health Risk Conflicting classifications of pathogenicity Autosomal recessive dyskeratosis congenita 4, Dyskeratosis congenita
RS199422305 TERT Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 1
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