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
RS587784170 NSD1 Health Risk Pathogenic Acute myeloid leukemia, Sotos syndrome
RS587784171 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS587784173 NSD1 Health Risk Likely pathogenic Sotos syndrome, Sotos syndrome
RS587784174 NSD1 Health Risk Pathogenic/Likely pathogenic Beckwith-Wiedemann syndrome, Sotos syndrome
RS587784175 NSD1 Health Risk Conflicting classifications of pathogenicity Sotos syndrome, Sotos syndrome
RS587784176 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS587784177 NSD1 Health Risk Pathogenic/Likely pathogenic 9 conditions, 7 conditions
RS587784178 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS587784179 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS587784180 NSD1 Health Risk Likely pathogenic Sotos syndrome, Sotos syndrome
RS587784181 NSD1 Health Risk Conflicting classifications of pathogenicity Sotos syndrome, Sotos syndrome
RS587784182 NSD1 Health Risk Conflicting classifications of pathogenicity Sotos syndrome, Inborn genetic diseases
RS587784183 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS587784184 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS587784185 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS587784186 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS587784187 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS587784188 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS587784189 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS587784190 NSD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Sotos syndrome
RS587784191 NSD1 Health Risk Pathogenic/Likely pathogenic Sotos syndrome, Sotos syndrome
RS587784192 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS587784193 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS587784195 NSD1 Health Risk Conflicting classifications of pathogenicity Sotos syndrome, Sotos syndrome
RS587784196 NSD1 Health Risk Likely pathogenic Sotos syndrome, Sotos syndrome
RS587784197 NSD1 Health Risk Pathogenic/Likely pathogenic Sotos syndrome, Sotos syndrome
RS587784198 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS587784199 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS587784200 NSD1 Health Risk Pathogenic/Likely pathogenic Sotos syndrome, Sotos syndrome
RS587784201 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS587784202 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS587784204 NSD1 Health Risk Likely pathogenic Sotos syndrome, Sotos syndrome
RS587784205 NSD1 Health Risk Conflicting classifications of pathogenicity Sotos syndrome, Sotos syndrome
RS587784206 NSD1 Health Risk Pathogenic/Likely pathogenic Sotos syndrome, Sotos syndrome
RS587784207 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS587784208 NSD1 Health Risk Pathogenic/Likely pathogenic Sotos syndrome, Sotos syndrome
RS587784209 NSD1 Health Risk Pathogenic Sotos syndrome, Neurodevelopmental disorder
RS587784210 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS587784211 NSD1 Health Risk Likely pathogenic Sotos syndrome, Sotos syndrome
RS587784213 NSD1 Health Risk Conflicting classifications of pathogenicity Sotos syndrome, Sotos syndrome
RS587784214 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS587784216 NSD1 Health Risk Conflicting classifications of pathogenicity Sotos syndrome, Inborn genetic diseases
RS587784219 NSD1 Health Risk Pathogenic/Likely pathogenic Sotos syndrome, Sotos syndrome
RS587784220 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS587784221 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS587784222 NSDHL Health Risk Likely pathogenic Child syndrome, Child syndrome
RS587784223 NSDHL Health Risk Conflicting classifications of pathogenicity Child syndrome, Child syndrome
RS587784224 NSDHL Health Risk Conflicting classifications of pathogenicity Child syndrome, Child syndrome
RS587784225 NSDHL Health Risk Pathogenic Child syndrome, Child syndrome
RS587784226 NSDHL Health Risk Pathogenic Child syndrome, Child syndrome
RS587784231 OFD1 Health Risk Pathogenic —
RS587784234 OPHN1 Health Risk Pathogenic X-linked intellectual disability-cerebellar hypoplasia syndrome, X-linked intellectual disability-cerebellar hypoplasia syndrome
RS587784235 PAFAH1B1 Health Risk Pathogenic Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
RS587784236 PAFAH1B1 Health Risk Pathogenic Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
RS587784237 PAFAH1B1 Health Risk Pathogenic Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
RS587784238 PAFAH1B1 Health Risk Pathogenic Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
RS587784239 PAFAH1B1 Health Risk Pathogenic Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
RS587784240 PAFAH1B1 Health Risk Pathogenic Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
RS587784241 PAFAH1B1 Health Risk Pathogenic Lissencephaly due to LIS1 mutation, Lissencephaly
RS587784242 PAFAH1B1 Health Risk Pathogenic Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
RS587784243 PAFAH1B1 Health Risk Pathogenic Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
RS587784244 PAFAH1B1 Health Risk Pathogenic Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
RS587784245 PAFAH1B1 Health Risk Pathogenic Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
RS587784247 PAFAH1B1 Health Risk Likely pathogenic Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
RS587784248 PAFAH1B1 Health Risk Pathogenic Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
RS587784249 PAFAH1B1 Health Risk Pathogenic Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
RS587784250 PAFAH1B1 Health Risk Likely pathogenic Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
RS587784251 PAFAH1B1 Health Risk Pathogenic Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
RS587784252 PAFAH1B1 Health Risk Pathogenic Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
RS587784253 PAFAH1B1 Health Risk Pathogenic Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
RS587784254 PAFAH1B1 Health Risk Conflicting classifications of pathogenicity Lissencephaly due to LIS1 mutation, Inborn genetic diseases
RS587784255 PAFAH1B1 Health Risk Conflicting classifications of pathogenicity Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
RS587784256 PAFAH1B1 Health Risk Pathogenic Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
RS587784257 PAFAH1B1 Health Risk Pathogenic Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
RS587784258 PAFAH1B1 Health Risk Pathogenic Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
RS587784259 PAFAH1B1 Health Risk Pathogenic Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
RS587784260 PAFAH1B1 Health Risk Pathogenic Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
RS587784261 PAFAH1B1 Health Risk Pathogenic Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
RS587784262 PAFAH1B1 Health Risk Pathogenic Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
RS587784263 PAFAH1B1 Health Risk Pathogenic Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
RS587784264 PAFAH1B1 Health Risk Pathogenic Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
RS587784265 PAFAH1B1 Health Risk Pathogenic Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
RS587784266 PAFAH1B1 Health Risk Pathogenic Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
RS587784267 PAFAH1B1 Health Risk Pathogenic Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
RS587784268 PAFAH1B1 Health Risk Pathogenic Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
RS587784269 PAFAH1B1 Health Risk Pathogenic Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
RS587784270 PAFAH1B1 Health Risk Pathogenic Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
RS587784271 PAFAH1B1 Health Risk Pathogenic Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
RS587784272 PAFAH1B1 Health Risk Pathogenic Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
RS587784273 PAFAH1B1 Health Risk Pathogenic Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
RS587784274 PAFAH1B1 Health Risk Pathogenic Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
RS587784275 PAFAH1B1 Health Risk Pathogenic Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
RS587784276 PAFAH1B1 Health Risk Pathogenic Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
RS587784277 PAFAH1B1 Health Risk Pathogenic Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
RS587784278 PAFAH1B1 Health Risk Pathogenic Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
RS587784279 PAFAH1B1 Health Risk Likely pathogenic Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
RS587784280 PAFAH1B1 Health Risk Pathogenic/Likely pathogenic Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
RS587784281 PAFAH1B1 Health Risk Pathogenic Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
RS587784282 PAFAH1B1 Health Risk Pathogenic Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
RS587784284 PAFAH1B1 Health Risk Pathogenic Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
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