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
RS2551045296 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS2551047604 TCF12 Health Risk Likely pathogenic Hypogonadotropic hypogonadism 26 with or without anosmia, Hypogonadotropic hypogonadism 26 with or without anosmia
RS2551074619 HERC1 Health Risk Pathogenic Macrocephaly, dysmorphic facies
RS2551077319 HERC1 Health Risk Pathogenic —
RS2551081507 BRCA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS2551084284 TCF12 Health Risk Likely pathogenic Male infertility with azoospermia or oligozoospermia due to single gene mutation, Male infertility with azoospermia or oligozoospermia due to single gene mutation
RS2551084305 TCF12 Health Risk Likely pathogenic TCF12-related craniosynostosis, TCF12-related craniosynostosis
RS2551103543 MAPKBP1 Health Risk Likely pathogenic Nephronophthisis 20, Nephronophthisis 20
RS2551273132 HERC1 Health Risk Likely pathogenic Macrocephaly, dysmorphic facies
RS2551278986 TCF12 Health Risk Likely pathogenic Delayed speech and language development, Global developmental delay
RS2551285409 HERC1 Health Risk Pathogenic Macrocephaly, dysmorphic facies
RS2551314154 TCF12 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2551324651 SYNE1 Health Risk Likely pathogenic Autosomal recessive ataxia, Beauce type
RS2551345158 HERC1 Health Risk Pathogenic —
RS2551395033 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2551418406 BRCA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2551438273 TCF12 Health Risk Likely pathogenic TCF12-related craniosynostosis, TCF12-related craniosynostosis
RS2551438479 TCF12 Health Risk Pathogenic —
RS2551443212 TCF12 Health Risk Likely pathogenic —
RS2551443653 TCF12 Health Risk Likely pathogenic TCF12-related craniosynostosis, TCF12-related craniosynostosis
RS2551453077 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2551464938 BRCA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2551469564 TCF12 Health Risk Conflicting classifications of pathogenicity TCF12-related craniosynostosis, TCF12-related craniosynostosis
RS2551469629 TCF12 Health Risk Pathogenic TCF12-related craniosynostosis, TCF12-related craniosynostosis
RS2551469699 TCF12 Health Risk Pathogenic TCF12-related disorder, TCF12-related disorder
RS2551470484 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2551473219 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS2551482755 TCF12 Health Risk Pathogenic —
RS2551484806 TCF12 Health Risk Pathogenic —
RS2551484936 TCF12 Health Risk Pathogenic —
RS2551484992 TCF12 Health Risk Likely pathogenic TCF12-related disorder, TCF12-related disorder
RS2551485019 TCF12 Health Risk Pathogenic —
RS2551485477 BRCA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2551487239 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS2551490627 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2551491616 TCF12 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2551491638 TCF12 Health Risk Pathogenic —
RS2551491721 TCF12 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2551492564 BRCA1 Health Risk Likely pathogenic Breast-ovarian cancer, familial
RS2551492625 TCF12 Health Risk Pathogenic —
RS2551492629 TCF12 Health Risk Pathogenic —
RS2551492642 TCF12 Health Risk Likely pathogenic Male infertility with azoospermia or oligozoospermia due to single gene mutation, Male infertility with azoospermia or oligozoospermia due to single gene mutation
RS2551492702 TCF12 Health Risk Likely pathogenic Hypogonadotropic hypogonadism 26 with or without anosmia, Hypogonadotropic hypogonadism 26 with or without anosmia
RS2551492921 TCF12 Health Risk Likely pathogenic TCF12-related disorder, TCF12-related disorder
RS2551493276 HERC1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2551495416 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2551496109 SYNE1 Health Risk Pathogenic —
RS2551499549 BRCA1 Health Risk Likely pathogenic Breast-ovarian cancer, familial
RS2551499709 TOPORS Health Risk Likely pathogenic —
RS2551500621 BRCA1 Health Risk Likely pathogenic Breast-ovarian cancer, familial
RS2551501177 TCF12 Health Risk Pathogenic —
RS2551501239 TCF12 Health Risk Pathogenic —
RS2551501285 TCF12 Health Risk Pathogenic —
RS2551501289 TCF12 Health Risk Likely pathogenic —
RS2551501300 TCF12 Health Risk Pathogenic TCF12-related craniosynostosis, TCF12-related craniosynostosis
RS2551501386 TCF12 Health Risk Pathogenic —
RS2551501427 TCF12 Health Risk Pathogenic —
RS2551505115 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS2551505402 SYNE1 Health Risk Pathogenic Autosomal recessive ataxia, Beauce type
RS2551545295 SYNE1 Health Risk Likely pathogenic SYNE1-related disorder, SYNE1-related disorder
RS2551593769 KCNMA1 Health Risk Pathogenic Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
RS2551617809 SYNE1 Health Risk Pathogenic Autosomal recessive ataxia, Beauce type
RS2551620475 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS2551625320 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS2551628076 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2551643451 NEB Health Risk Likely pathogenic Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6
RS2551647323 NEB Health Risk Likely pathogenic Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6
RS2551647849 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2551663650 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2551667327 NEB Health Risk Likely pathogenic Arthrogryposis multiplex congenita 6, Nemaline myopathy 2
RS2551667649 NEB Health Risk Likely pathogenic Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6
RS2551669530 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2551671374 NEB Health Risk Likely pathogenic Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6
RS2551671576 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2551671834 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2551672017 NEB Health Risk Likely pathogenic Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6
RS2551679304 BRCA1 Health Risk Likely pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2551689269 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS2551692654 BRCA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2551693911 BRCA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2551694835 SYNE1 Health Risk Pathogenic Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS2551694878 BRCA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2551697220 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2551698321 SYNE1 Health Risk Pathogenic Autosomal recessive ataxia, Beauce type
RS2551700360 MYZAP Health Risk Pathogenic Cardiomyopathy, dilated
RS2551706794 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2551706848 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2551707143 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2551707232 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2551707826 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2551708075 NEB Health Risk Likely pathogenic Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6
RS2551710477 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS2551714172 KCNMA1 Health Risk Likely pathogenic Autism spectrum disorder, Autism spectrum disorder
RS2551725763 SYNE1 Health Risk Likely pathogenic Autosomal recessive ataxia, Beauce type
RS2551726011 NEB Health Risk Likely pathogenic Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6
RS2551726176 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2551726251 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2551726369 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2551726479 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2551726621 NEB Health Risk Pathogenic Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6
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