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
RS2466376121 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS2466376448 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS2466376668 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS2466376675 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS2466376681 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS2466376726 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS2466377208 LRPPRC Health Risk Likely pathogenic —
RS2466377967 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS2466377994 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS2466378042 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS2466378229 LRPPRC Health Risk Pathogenic/Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS2466378351 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS2466378358 LRPPRC Health Risk Pathogenic —
RS2466384952 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS2466385435 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS2466385525 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS2466385686 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2466385968 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2466386012 ALMS1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Alstrom syndrome
RS2466401180 LRPPRC Health Risk Pathogenic —
RS2466401200 LRPPRC Health Risk Pathogenic —
RS2466401295 LRPPRC Health Risk Pathogenic —
RS2466401355 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS2466401731 LRPPRC Health Risk Likely pathogenic —
RS2466402472 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS2466402610 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS2466402650 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2466403086 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS2466408583 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2466408692 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2466423921 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS2466424047 LRPPRC Health Risk Pathogenic —
RS2466424076 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS2466424201 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS2466424600 CNNM4 Health Risk Pathogenic —
RS2466424623 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS2466424635 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS2466443044 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS2466443292 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2466443694 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2466444235 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2466444538 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2466444540 ALMS1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS2466444591 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS2466444822 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2466444847 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2466444966 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2466445042 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS2466445112 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2466445473 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS2466445680 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2466445896 ALMS1 Health Risk Pathogenic ALMS1-related disorder, ALMS1-related disorder
RS2466446440 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2466446965 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2466448042 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2466448279 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS2466450073 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS2466450353 LRPPRC Health Risk Pathogenic —
RS2466450957 LRPPRC Health Risk Likely pathogenic —
RS2466451739 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS2466451908 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS2466452128 LRPPRC Health Risk Pathogenic —
RS2466452466 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS2466452641 LRPPRC Health Risk Pathogenic —
RS2466482671 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS2466482718 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS2466482774 LRPPRC Health Risk Pathogenic —
RS2466483045 LRPPRC Health Risk Pathogenic —
RS2466486944 CNNM4 Health Risk Pathogenic —
RS2466493117 PREPL Health Risk Pathogenic Myasthenic syndrome, congenital
RS2466493535 PREPL Health Risk Pathogenic Myasthenic syndrome, congenital
RS2466502156 POLR1A Health Risk Likely pathogenic Acrofacial dysostosis Cincinnati type, Acrofacial dysostosis Cincinnati type
RS2466511500 WDPCP Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2466513754 SIX3 Health Risk Pathogenic —
RS2466513762 SIX3 Health Risk Pathogenic Holoprosencephaly 2, Holoprosencephaly 2
RS2466514157 SIX3 Health Risk Pathogenic Holoprosencephaly 2, Holoprosencephaly 2
RS2466515122 SIX3 Health Risk Pathogenic —
RS2466516085 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS2466516478 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2466518337 SIX3 Health Risk Likely pathogenic —
RS2466519615 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS2466519743 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2466519774 ALMS1 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2466520056 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2466520729 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2466522425 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS2466522732 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2466522819 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2466522962 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS2466522998 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS2466525468 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS2466525725 LRPPRC Health Risk Pathogenic —
RS2466526261 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2466526494 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2466526986 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2466529554 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS2466529587 ALMS1 Health Risk Pathogenic Cardiovascular phenotype, Alstrom syndrome
RS2466540816 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2466540845 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2466540891 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
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