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
RS2518385575 ARSL Health Risk Likely pathogenic Chondrodysplasia punctata, brachytelephalangic
RS2518393305 SHANK3 Health Risk Conflicting classifications of pathogenicity Phelan-McDermid syndrome, Phelan-McDermid syndrome
RS2518395818 DEPDC5 Health Risk Pathogenic Seizure, Seizure
RS2518397146 SHANK3 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2518404916 LOC126863188;SHANK3 Health Risk Pathogenic Phelan-McDermid syndrome, Phelan-McDermid syndrome
RS2518405969 SHANK3 Health Risk Pathogenic —
RS2518417913 SHANK3 Health Risk Pathogenic Phelan-McDermid syndrome, Phelan-McDermid syndrome
RS2518418341 PCNT Health Risk Pathogenic —
RS2518418801 PCNT Health Risk Likely pathogenic —
RS2518420699 MSL3 Health Risk Pathogenic Basilicata-Akhtar syndrome, Basilicata-Akhtar syndrome
RS2518423160 MSL3 Health Risk Likely pathogenic Basilicata-Akhtar syndrome, Nonpapillary renal cell carcinoma
RS2518425246 SHANK3 Health Risk Likely pathogenic Phelan-McDermid syndrome, Phelan-McDermid syndrome
RS2518425257 SHANK3 Health Risk Pathogenic Phelan-McDermid syndrome, Phelan-McDermid syndrome
RS2518425438 SHANK3 Health Risk Likely pathogenic Phelan-McDermid syndrome, Phelan-McDermid syndrome
RS2518425642 SHANK3 Health Risk Likely pathogenic Phelan-McDermid syndrome, Phelan-McDermid syndrome
RS2518426396 MSL3 Health Risk Pathogenic Basilicata-Akhtar syndrome, Basilicata-Akhtar syndrome
RS2518426434 SHANK3 Health Risk Likely pathogenic Phelan-McDermid syndrome, Phelan-McDermid syndrome
RS2518426468 SHANK3 Health Risk Pathogenic Phelan-McDermid syndrome, Phelan-McDermid syndrome
RS2518426728 SHANK3 Health Risk Pathogenic Phelan-McDermid syndrome, Phelan-McDermid syndrome
RS2518426852 SHANK3 Health Risk Likely pathogenic Phelan-McDermid syndrome, Phelan-McDermid syndrome
RS2518427127 SHANK3 Health Risk Pathogenic Phelan-McDermid syndrome, Phelan-McDermid syndrome
RS2518427323 SHANK3 Health Risk Likely pathogenic Phelan-McDermid syndrome, Phelan-McDermid syndrome
RS2518427341 SHANK3 Health Risk Likely pathogenic Phelan-McDermid syndrome, Phelan-McDermid syndrome
RS2518427524 SHANK3 Health Risk Pathogenic Phelan-McDermid syndrome, Phelan-McDermid syndrome
RS2518427933 SHANK3 Health Risk Pathogenic Phelan-McDermid syndrome, Phelan-McDermid syndrome
RS2518428548 SHANK3 Health Risk Likely pathogenic Phelan-McDermid syndrome, Phelan-McDermid syndrome
RS2518428922 SHANK3 Health Risk Likely pathogenic Phelan-McDermid syndrome, Phelan-McDermid syndrome
RS2518428935 SHANK3 Health Risk Pathogenic Phelan-McDermid syndrome, Phelan-McDermid syndrome
RS2518429694 SHANK3 Health Risk Pathogenic Phelan-McDermid syndrome, Schizophrenia 15
RS2518429854 SHANK3 Health Risk Pathogenic Phelan-McDermid syndrome, Phelan-McDermid syndrome
RS2518429888 SHANK3 Health Risk Pathogenic Phelan-McDermid syndrome, Phelan-McDermid syndrome
RS2518429961 SHANK3 Health Risk Pathogenic Phelan-McDermid syndrome, Phelan-McDermid syndrome
RS2518430518 SHANK3 Health Risk Pathogenic/Likely pathogenic Phelan-McDermid syndrome, Intellectual disability
RS2518433178 MYO18B Health Risk Pathogenic Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome, Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
RS2518433736 MYO18B Health Risk Pathogenic —
RS2518433950 MYO18B Health Risk Pathogenic —
RS2518434727 MLC1 Health Risk Likely pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts 1
RS2518435267 MSL3 Health Risk Pathogenic Basilicata-Akhtar syndrome, Basilicata-Akhtar syndrome
RS2518435287 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS2518436090 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS2518436598 MYO18B Health Risk Pathogenic —
RS2518436718 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS2518437138 MYO18B Health Risk Pathogenic —
RS2518438898 SHANK3 Health Risk Pathogenic Phelan-McDermid syndrome, Phelan-McDermid syndrome
RS2518438901 SHANK3 Health Risk Pathogenic Phelan-McDermid syndrome, Phelan-McDermid syndrome
RS2518439090 SHANK3 Health Risk Likely pathogenic Phelan-McDermid syndrome, Phelan-McDermid syndrome
RS2518439217 SHANK3 Health Risk Likely pathogenic SHANK3-related disorder, SHANK3-related disorder
RS2518439281 SHANK3 Health Risk Pathogenic Phelan-McDermid syndrome, Phelan-McDermid syndrome
RS2518439453 SHANK3 Health Risk Likely pathogenic Phelan-McDermid syndrome, Phelan-McDermid syndrome
RS2518439785 SHANK3 Health Risk Pathogenic —
RS2518439821 SHANK3 Health Risk Likely pathogenic SHANK3-related disorder, SHANK3-related disorder
RS2518440963 ANOS1 Health Risk Pathogenic Hypogonadotropic hypogonadism 1 with or without anosmia, Hypogonadotropic hypogonadism 1 with or without anosmia
RS2518448686 ACR Health Risk Pathogenic Spermatogenic failure 87, Spermatogenic failure 87
RS2518460852 MLC1 Health Risk Likely pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts 1
RS2518461134 MLC1 Health Risk Pathogenic —
RS2518465594 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS2518467155 ANOS1 Health Risk Pathogenic Hypogonadotropic hypogonadism 1 with or without anosmia, Hypogonadotropic hypogonadism 1 with or without anosmia
RS2518468186 ANOS1 Health Risk Pathogenic Hypogonadotropic hypogonadism 1 with or without anosmia, Hypogonadotropic hypogonadism 1 with or without anosmia
RS2518469618 ANOS1 Health Risk Likely pathogenic Hypogonadotropic hypogonadism 1 with or without anosmia, Hypogonadotropic hypogonadism 1 with or without anosmia
RS2518471430 HPS4 Health Risk Pathogenic —
RS2518472366 HCCS Health Risk Likely pathogenic Linear skin defects with multiple congenital anomalies 1, Linear skin defects with multiple congenital anomalies 1
RS2518472872 HPS4 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4
RS2518474197 NLGN4X Health Risk Likely pathogenic Autism, susceptibility to
RS2518482190 ANOS1 Health Risk Pathogenic Hypogonadotropic hypogonadism 1 with or without anosmia, Hypogonadotropic hypogonadism 1 with or without anosmia
RS2518487129 HPS4 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4
RS2518487678 MLC1 Health Risk Likely pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts 1
RS2518487922 PHKA2 Health Risk Pathogenic Glycogen storage disease IXa1, Glycogen storage disease IXa1
RS2518488062 MLC1 Health Risk Pathogenic —
RS2518488079 MLC1 Health Risk Pathogenic/Likely pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts 1
RS2518488096 MLC1 Health Risk Likely pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts 1
RS2518488260 HPS4 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4
RS2518488310 MLC1 Health Risk Pathogenic —
RS2518488607 MLC1 Health Risk Likely pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts 1
RS2518488789 MLC1 Health Risk Pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts 1
RS2518488795 MLC1 Health Risk Likely pathogenic —
RS2518492759 ANOS1 Health Risk Pathogenic Hypogonadotropic hypogonadism 1 with or without anosmia, Hypogonadotropic hypogonadism 1 with or without anosmia
RS2518492806 ANOS1 Health Risk Pathogenic Hypogonadotropic hypogonadism 1 with or without anosmia, Hypogonadotropic hypogonadism 1 with or without anosmia
RS2518492977 ANOS1 Health Risk Pathogenic Hypogonadotropic hypogonadism 1 with or without anosmia, Hypogonadotropic hypogonadism 1 with or without anosmia
RS2518492991 ANOS1 Health Risk Pathogenic Hypogonadotropic hypogonadism 1 with or without anosmia, Hypogonadotropic hypogonadism 1 with or without anosmia
RS2518497064 PDHA1 Health Risk Likely pathogenic Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency
RS2518498625 PDHA1 Health Risk Pathogenic Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency
RS2518498635 PDHA1 Health Risk Likely pathogenic Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency
RS2518499632 PDHA1 Health Risk Pathogenic Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency
RS2518499685 PDHA1 Health Risk Pathogenic —
RS2518499712 PDHA1 Health Risk Pathogenic Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency
RS2518499772 PDHA1 Health Risk Pathogenic Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency
RS2518500152 ANOS1 Health Risk Likely pathogenic —
RS2518500156 ANOS1 Health Risk Likely pathogenic —
RS2518500437 PDHA1 Health Risk Conflicting classifications of pathogenicity Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency
RS2518502222 MLC1 Health Risk Likely pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts 1
RS2518502381 MLC1 Health Risk Pathogenic —
RS2518502640 SNAP29 Health Risk Pathogenic —
RS2518503103 SNAP29 Health Risk Pathogenic —
RS2518503242 DRG1 Health Risk Likely pathogenic Tan-Almurshedi syndrome, Tan-Almurshedi syndrome
RS2518505616 PDHA1 Health Risk Pathogenic Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency
RS2518505642 PDHA1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2518505720 PDHA1 Health Risk Pathogenic Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency
RS2518507553 PDHA1 Health Risk Pathogenic/Likely pathogenic Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency
RS2518507652 PDHA1 Health Risk Pathogenic Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency
RS2518507871 PDHA1 Health Risk Likely pathogenic Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency
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