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
RS2466115606 ALMS1 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2466115753 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2466115813 ALMS1 Health Risk Pathogenic —
RS2466120526 PREPL Health Risk Pathogenic Myasthenic syndrome, congenital
RS2466127403 TTC7A Health Risk Likely pathogenic Gastrointestinal defect and immunodeficiency syndrome, Gastrointestinal defect and immunodeficiency syndrome
RS2466128633 GGCX Health Risk Pathogenic —
RS2466129998 TTC7A Health Risk Pathogenic Multiple gastrointestinal atresias, Multiple gastrointestinal atresias
RS2466134556 GGCX Health Risk Pathogenic —
RS2466150084 ABCG5 Health Risk Pathogenic Cardiovascular phenotype, Sitosterolemia
RS2466152425 GFPT1 Health Risk Likely pathogenic Congenital myasthenic syndrome, Congenital myasthenic syndrome
RS2466158443 ABCG8 Health Risk Pathogenic —
RS2466185862 TCF4 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2466199331 BCL11A Health Risk Pathogenic —
RS2466201941 ABCG8 Health Risk Likely pathogenic Sitosterolemia 1, Sitosterolemia 1
RS2466203768 ABCG8 Health Risk Likely pathogenic Early-onset coronary artery disease, Early-onset coronary artery disease
RS2466212358 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2466212433 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2466212471 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS2466213478 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2466213585 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS2466213874 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2466214029 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2466214267 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2466214414 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2466214814 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2466215227 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2466215282 TTC7A Health Risk Likely pathogenic TTC7A-related disorder, TTC7A-related disorder
RS2466215388 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2466215433 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2466215745 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS2466215789 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2466216835 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2466216889 ALMS1 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2466216987 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2466216995 ALMS1 Health Risk Pathogenic Cardiovascular phenotype, Alstrom syndrome
RS2466218463 ALMS1 Health Risk Pathogenic Alstrom syndrome, Cardiovascular phenotype
RS2466219039 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS2466219130 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2466219921 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS2466220020 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2466220765 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS2466220962 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2466223873 ATP6V1B1 Health Risk Likely pathogenic —
RS2466223874 BCL11A Health Risk Pathogenic Global developmental delay, Global developmental delay
RS2466224624 BCL11A Health Risk Pathogenic —
RS2466224871 BCL11A Health Risk Likely pathogenic —
RS2466227414 BCL11A Health Risk Pathogenic —
RS2466230694 BCL11A Health Risk Likely pathogenic Dias-Logan syndrome, Dias-Logan syndrome
RS2466231694 BCL11A Health Risk Pathogenic Dias-Logan syndrome, Dias-Logan syndrome
RS2466234128 BCL11A Health Risk Pathogenic Dias-Logan syndrome, Dias-Logan syndrome
RS2466254913 BCL11A Health Risk Pathogenic Dias-Logan syndrome, Dias-Logan syndrome
RS2466259921 BCL11A Health Risk Pathogenic Dias-Logan syndrome, Dias-Logan syndrome
RS2466263741 STAMBP Health Risk Pathogenic Microcephaly-capillary malformation syndrome, Microcephaly-capillary malformation syndrome
RS2466267591 BCL11A Health Risk Likely pathogenic Dias-Logan syndrome, Dias-Logan syndrome
RS2466269611 BCL11A Health Risk Likely pathogenic Dias-Logan syndrome, BCL11A-related disorder
RS2466277676 ABCG8 Health Risk Pathogenic —
RS2466278135 ABCG8 Health Risk Conflicting classifications of pathogenicity Sitosterolemia 1, Cardiovascular phenotype
RS2466279219 PREPL Health Risk Likely pathogenic Myasthenic syndrome, congenital
RS2466280534 ABCG8 Health Risk Likely pathogenic —
RS2466284122 TTC7A Health Risk Pathogenic Multiple gastrointestinal atresias, Multiple gastrointestinal atresias
RS2466284158 ATP6V1B1 Health Risk Pathogenic —
RS2466284165 ATP6V1B1 Health Risk Pathogenic —
RS2466284280 ATP6V1B1 Health Risk Likely pathogenic —
RS2466284785 ATP6V1B1 Health Risk Likely pathogenic Renal tubular acidosis with progressive nerve deafness, Renal tubular acidosis with progressive nerve deafness
RS2466285143 ATP6V1B1 Health Risk Pathogenic/Likely pathogenic Renal tubular acidosis with progressive nerve deafness, Renal tubular acidosis with progressive nerve deafness
RS2466285213 ATP6V1B1 Health Risk Pathogenic —
RS2466286557 REL Health Risk Pathogenic —
RS2466287299 ATP6V1B1 Health Risk Likely pathogenic Renal tubular acidosis with progressive nerve deafness, Renal tubular acidosis
RS2466287307 ATP6V1B1 Health Risk Pathogenic —
RS2466290660 ATP6V1B1 Health Risk Pathogenic —
RS2466290792 ATP6V1B1 Health Risk Pathogenic —
RS2466291172 ATP6V1B1 Health Risk Pathogenic —
RS2466292637 ABCG8 Health Risk Pathogenic Abnormal circulating lipid concentration, Abnormal circulating lipid concentration
RS2466293579 ATP6V1B1 Health Risk Likely pathogenic —
RS2466293861 ATP6V1B1 Health Risk Pathogenic —
RS2466299618 ATP6V1B1 Health Risk Likely pathogenic —
RS2466299923 ATP6V1B1 Health Risk Pathogenic —
RS2466300193 ATP6V1B1 Health Risk Pathogenic Renal tubular acidosis with progressive nerve deafness, Renal tubular acidosis with progressive nerve deafness
RS2466301518 ATP6V1B1 Health Risk Likely pathogenic Renal tubular acidosis with progressive nerve deafness, Renal tubular acidosis with progressive nerve deafness
RS2466302978 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2466303019 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2466303109 ATP6V1B1 Health Risk Pathogenic —
RS2466303417 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2466304011 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2466304058 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2466304186 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS2466306243 ATP6V1B1 Health Risk Pathogenic —
RS2466307556 ATP6V1B1 Health Risk Likely pathogenic Renal tubular acidosis with progressive nerve deafness, Renal tubular acidosis with progressive nerve deafness
RS2466334369 PREPL Health Risk Pathogenic Myasthenic syndrome, congenital
RS2466335665 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS2466340239 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS2466340437 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS2466344219 PRRT2 Health Risk Pathogenic/Likely pathogenic Episodic kinesigenic dyskinesia 1, Seizures
RS2466354369 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS2466354392 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS2466354524 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS2466354634 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS2466354647 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS2466364178 LRPPRC Health Risk Likely pathogenic —
RS2466370942 EXOC6B Health Risk Likely pathogenic —
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