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
RS1555897088 GATA5 Health Risk Pathogenic Congenital heart defects, multiple types
RS1555897392 DEPDC5 Health Risk Pathogenic Self-limited epilepsy with centrotemporal spikes, Self-limited epilepsy with centrotemporal spikes
RS1555897462 MRAP Health Risk Pathogenic Glucocorticoid deficiency 1, Glucocorticoid deficiency 1
RS1555897997 SON Health Risk Pathogenic —
RS1555898000 SON Health Risk Pathogenic —
RS1555898264 SON Health Risk Pathogenic —
RS1555898280 SON Health Risk Pathogenic —
RS1555898374 SON Health Risk Pathogenic —
RS1555898531 SON Health Risk Pathogenic ZTTK syndrome, ZTTK syndrome
RS1555898622 SON Health Risk Pathogenic —
RS1555898806 SON Health Risk Pathogenic —
RS1555898930 SON Health Risk Pathogenic —
RS1555899082 MID1 Health Risk Pathogenic —
RS1555899096 RTEL1 Health Risk Likely pathogenic Dyskeratosis congenita, Dyskeratosis congenita
RS1555899111 RTEL1 Health Risk Pathogenic Dyskeratosis congenita, Dyskeratosis congenita
RS1555899177 SON Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555899242 SON Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555899379 SON Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555899560 SON Health Risk Pathogenic ZTTK syndrome, ZTTK syndrome
RS1555899640 RTEL1 Health Risk Likely pathogenic Interstitial lung disease 2, Interstitial lung disease 2
RS1555899735 RUNX1 Health Risk Likely pathogenic Hereditary thrombocytopenia and hematologic cancer predisposition syndrome, Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
RS1555899773 RTEL1 Health Risk Likely pathogenic Dyskeratosis congenita, autosomal recessive 5
RS1555899813 RUNX1 Health Risk Pathogenic Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS1555899932 RTEL1 Health Risk Pathogenic Dyskeratosis congenita, autosomal recessive 5
RS1555900150 ARSA Health Risk Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS1555900191 ARSA Health Risk Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS1555900463 ARSA Health Risk Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS1555900623 ARSA Health Risk Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS1555900675 OFD1 Health Risk Likely pathogenic Orofaciodigital syndrome I, Orofaciodigital syndrome I
RS1555900678 ARSA Health Risk Pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS1555900734 OFD1 Health Risk Likely pathogenic Orofaciodigital syndrome I, Orofaciodigital syndrome I
RS1555900832 ASXL1 Health Risk Likely pathogenic —
RS1555900849 ARSA Health Risk Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS1555900900 ARSA Health Risk Pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS1555900914 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS1555900989 ARSA Health Risk Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS1555901000 RTEL1 Health Risk Likely pathogenic Dyskeratosis congenita, autosomal recessive 5
RS1555901024 ARSA Health Risk Conflicting classifications of pathogenicity Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS1555901056 ARSA Health Risk Pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS1555901083 ARSA Health Risk Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS1555901108 ARSA Health Risk Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS1555901112 ARSA Health Risk Pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS1555901137 OFD1 Health Risk Pathogenic Orofaciodigital syndrome I, Orofaciodigital syndrome I
RS1555901138 ASXL1 Health Risk Pathogenic Bohring-Opitz syndrome, Bohring-Opitz syndrome
RS1555901146 OFD1 Health Risk Pathogenic Orofaciodigital syndrome I, Orofaciodigital syndrome I
RS1555901169 OFD1 Health Risk Likely pathogenic Orofaciodigital syndrome I, Orofaciodigital syndrome I
RS1555901170 ARSA Health Risk Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS1555901832 RTEL1 Health Risk Pathogenic/Likely pathogenic Dyskeratosis congenita, autosomal recessive 5
RS1555902247 EP300 Health Risk Pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS1555902640 OFD1 Health Risk Pathogenic Joubert syndrome, Orofaciodigital syndrome I
RS1555902797 OFD1 Health Risk Likely pathogenic —
RS1555902810 RBFOX2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555902866 OFD1 Health Risk Pathogenic Joubert syndrome, Orofaciodigital syndrome I
RS1555903332 RTEL1 Health Risk Pathogenic/Likely pathogenic Dyskeratosis congenita, Acute myeloid leukemia
RS1555903969 ADSL Health Risk Conflicting classifications of pathogenicity Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency
RS1555904005 OFD1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 10, Joubert syndrome 10
RS1555904148 AP1S2 Health Risk Pathogenic —
RS1555904182 AP1S2 Health Risk Pathogenic Pettigrew syndrome, Pettigrew syndrome
RS1555904480 OFD1 Health Risk Likely pathogenic Orofaciodigital syndrome I, Orofaciodigital syndrome I
RS1555904591 ANOS1 Health Risk Pathogenic Hypogonadotropic hypogonadism 1 with or without anosmia, Hypogonadotropic hypogonadism 1 with or without anosmia
RS1555904596 ANOS1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555904878 AP1S2 Health Risk Pathogenic Fried syndrome, Pettigrew syndrome
RS1555905154 MID1 Health Risk Conflicting classifications of pathogenicity —
RS1555905780 EP300 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555906316 OFD1 Health Risk Likely pathogenic —
RS1555906705 SHANK3 Health Risk Likely pathogenic —
RS1555906707 MSL3 Health Risk Likely pathogenic Basilicata-Akhtar syndrome, Intellectual disability
RS1555906768 MSL3 Health Risk Pathogenic/Likely pathogenic Intellectual disability, Basilicata-Akhtar syndrome
RS1555906781 MSL3 Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS1555906894 OFD1 Health Risk Pathogenic —
RS1555907034 OFD1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555907215 MSL3 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555907238 TUBGCP6 Health Risk Likely pathogenic —
RS1555907270 TUBGCP6 Health Risk Likely pathogenic —
RS1555907278 EP300 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555907286 EP300 Health Risk Likely pathogenic —
RS1555907463 SYNJ1 Health Risk Pathogenic Early-onset Parkinson disease 20, Early-onset Parkinson disease 20
RS1555907536 HPS4 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4
RS1555907620 MSL3 Health Risk Pathogenic/Likely pathogenic Intellectual disability, Basilicata-Akhtar syndrome
RS1555907623 MSL3 Health Risk Likely pathogenic Intellectual disability, Basilicata-Akhtar syndrome
RS1555907626 MSL3 Health Risk Likely pathogenic Basilicata-Akhtar syndrome, Intellectual disability
RS1555907653 MSL3 Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS1555907654 TUBGCP6 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555907749 EP300 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555907864 MSL3 Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS1555908409 RAC2 Health Risk Pathogenic/Likely pathogenic Neutrophil immunodeficiency syndrome, Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia
RS1555908577 TUBGCP6 Health Risk Pathogenic —
RS1555908598 SHANK3 Health Risk Pathogenic —
RS1555908702 SHANK3 Health Risk Likely pathogenic —
RS1555908820 OFD1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1555908924 ADSL Health Risk Likely pathogenic —
RS1555909466 ARSL Health Risk Likely pathogenic —
RS1555909666 EP300 Health Risk Pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS1555909697 EP300 Health Risk Pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS1555909961 TMPRSS15 Health Risk Likely pathogenic Enterokinase deficiency, Enterokinase deficiency
RS1555910013 SHANK3 Health Risk Pathogenic —
RS1555910034 SHANK3 Health Risk Pathogenic —
RS1555910048 SHANK3 Health Risk Pathogenic Intellectual disability, Intellectual disability
RS1555910114 EP300 Health Risk Pathogenic/Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, CHARGE syndrome
RS1555910122 EP300 Health Risk Pathogenic —
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