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
RS2551726656 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2551731434 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2551731512 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2551732406 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2551732443 NEB Health Risk Likely pathogenic Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6
RS2551732607 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2551734016 SYNE1 Health Risk Likely pathogenic —
RS2551740587 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2551741002 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2551741253 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2551741314 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2551776410 SYNE1 Health Risk Likely pathogenic SYNE1-related disorder, SYNE1-related disorder
RS2551802036 KCNMA1 Health Risk Likely pathogenic KCNMA1-related disorder, KCNMA1-related disorder
RS2551803002 KCNMA1 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, Liang-Wang syndrome
RS2551809624 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2551810882 NEB Health Risk Pathogenic Nemaline myopathy, Nemaline myopathy
RS2551811961 NEB Health Risk Pathogenic NEB-related disorder, NEB-related disorder
RS2551841547 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2551841653 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy, Arthrogryposis multiplex congenita 6
RS2551842527 NEB Health Risk Pathogenic/Likely pathogenic Arthrogryposis multiplex congenita 6, Nemaline myopathy 2
RS2551842932 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2551843345 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS2551848818 SYNE1 Health Risk Likely pathogenic Autosomal recessive ataxia, Beauce type
RS2551853203 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2551853532 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2551853566 NEB Health Risk Pathogenic/Likely pathogenic Arthrogryposis multiplex congenita 6, Nemaline myopathy 2
RS2551853918 NEB Health Risk Pathogenic Nemaline myopathy, Nemaline myopathy
RS2551854193 NEB Health Risk Likely pathogenic Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6
RS2551869054 PRKDC Health Risk Conflicting classifications of pathogenicity PRKDC-related disorder, PRKDC-related disorder
RS2551871389 NEB Health Risk Likely pathogenic Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6
RS2551871685 NEB Health Risk Likely pathogenic Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6
RS2551872366 NEB Health Risk Likely pathogenic Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6
RS2551872389 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2551872407 NEB Health Risk Likely pathogenic Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6
RS2551872755 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2551881997 SYNE1 Health Risk Pathogenic Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS2551882028 SYNE1 Health Risk Pathogenic Autosomal recessive ataxia, Beauce type
RS2551882518 SYNE1 Health Risk Likely pathogenic Autosomal recessive ataxia, Beauce type
RS2551888705 NEB Health Risk Likely pathogenic Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6
RS2551888897 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2551889054 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS2551889376 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2551898316 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS2551899288 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS2551900916 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2551902245 SYNE1 Health Risk Likely pathogenic —
RS2551906636 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2551907730 NEB Health Risk Likely pathogenic Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6
RS2551915138 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS2551920618 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS2551922153 UCHL1 Health Risk Pathogenic Spastic paraplegia 79A, autosomal dominant
RS2551922518 UCHL1;UCHL1-DT Health Risk Pathogenic Spastic paraplegia 79A, autosomal dominant
RS2551926903 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS2551932759 BRCA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2551935515 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2551935635 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2551935766 NEB Health Risk Pathogenic Arthrogryposis multiplex congenita 6, Nemaline myopathy 2
RS2551935931 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2551936300 NEB Health Risk Likely pathogenic Arthrogryposis multiplex congenita 6, Nemaline myopathy 2
RS2551938740 BRCA1 Health Risk Pathogenic/Likely pathogenic Breast-ovarian cancer, familial
RS2551948233 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2551969453 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2551970111 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Nemaline myopathy
RS2551971087 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2551991583 NEB Health Risk Likely pathogenic Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6
RS2552008403 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552008486 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552009393 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552009479 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552009812 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552010058 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552010255 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552010277 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552010325 NEB Health Risk Pathogenic Nemaline myopathy, Nemaline myopathy
RS2552010360 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS2552035444 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552036032 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS2552036488 NEB Health Risk Likely pathogenic Arthrogryposis multiplex congenita 6, Nemaline myopathy 2
RS2552072090 SYNE1 Health Risk Pathogenic Autosomal recessive ataxia, Beauce type
RS2552073380 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552073411 NEB Health Risk Likely pathogenic Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6
RS2552073441 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552073521 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552073612 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552076561 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552076566 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552076605 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552076647 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552076658 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552076759 NEB Health Risk Pathogenic —
RS2552079120 NEB Health Risk Likely pathogenic Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6
RS2552079279 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552079302 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552079414 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552081224 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552081244 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552081312 NEB Health Risk Likely pathogenic Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6
RS2552083259 SYNE1 Health Risk Pathogenic Autosomal recessive ataxia, Beauce type
RS2552085287 NEB Health Risk Likely pathogenic Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6
RS2552085296 NEB Health Risk Likely pathogenic Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6
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