RS139617644 TCIRG1

Health Risk Chr 11:68049079 snv splice acceptor variant
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What This Variant Does
"CLNSIG=5
Associated Conditions
Autosomal recessive osteopetrosis 1
Osteopetrosis
TCIRG1-related disorder
Clear cell carcinoma of kidney
Autosomal recessive osteopetrosis 1
Thyroid cancer
nonmedullary
1
Autosomal recessive osteopetrosis 1
Osteopetrosis
TCIRG1-related disorder
Clear cell carcinoma of kidney
Autosomal recessive osteopetrosis 1
Thyroid cancer
nonmedullary
Population Frequencies
gnomAD ALL
0%
1kG AFR
100%
1kG ALL
0%
1kG AMR
100%
1kG EAS
100%
1kG EUR
0.1%
1kG SAS
100%
Other Variants in TCIRG1
rs1554996130 rs137853149 rs751881962 rs137853150 rs137853151 rs2134438856 rs111424326 rs183885218 rs140963213 rs34227834
Ask Dr. Hemsworth about this variant