RS121918472 PROS1

Health Risk Chr 3:93879305 snv missense variant
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What This Variant Does
"[OMIM:?]
Associated Conditions
Protein S Heerlen
Thrombophilia due to protein S deficiency
autosomal recessive
autosomal dominant
Retinal dystrophy
Hereditary thrombophilia due to congenital protein S deficiency
Optic atrophy
Protein S Heerlen
Thrombophilia due to protein S deficiency
autosomal recessive
autosomal dominant
Retinal dystrophy
Hereditary thrombophilia due to congenital protein S deficiency
Optic atrophy
Population Frequencies
gnomAD ALL
0%
1kG AFR
100%
1kG ALL
99.9%
1kG AMR
100%
1kG EAS
100%
1kG EUR
0.3%
1kG SAS
0.2%
Other Variants in PROS1
rs121918473 rs121918474 rs267606981 rs2107137679 rs121918475 rs387906674 rs387906675 rs142846443 rs138925964 rs199469491
Ask Dr. Hemsworth about this variant