RS139838884 HSPG2

Health Risk Chr 1:21844158 snv missense variant
Upload your DNA to see your genotype for this variant.
Associated Conditions
Schwartz-Jampel syndrome
Lethal Kniest-like syndrome
Inborn genetic diseases
HSPG2-related disorder
Schwartz-Jampel syndrome
Lethal Kniest-like syndrome
Inborn genetic diseases
HSPG2-related disorder
Population Frequencies
gnomAD ALL
100%
1kG AFR
0.3%
1kG ALL
0.1%
1kG AMR
100%
1kG EAS
100%
1kG EUR
100%
1kG SAS
100%
Other Variants in HSPG2
rs1572204991 rs137853248 rs2152721133 rs1572220282 rs748523693 rs2550665451 rs143669458 rs773662857 rs368983547 rs142433309
Ask Dr. Hemsworth about this variant