RS121908202 TPP1

Health Risk Chr 11:6615171 snv missense variant
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Associated Conditions
Neuronal ceroid lipofuscinosis 2
Neuronal ceroid lipofuscinosis
Autosomal recessive spinocerebellar ataxia 7
Neuronal ceroid lipofuscinosis 2
Neuronal ceroid lipofuscinosis
Autosomal recessive spinocerebellar ataxia 7
Population Frequencies
gnomAD ALL
100%
1kG AFR
99.8%
1kG ALL
0%
1kG AMR
100%
1kG EAS
100%
1kG EUR
100%
1kG SAS
100%
Other Variants in TPP1
rs119455953 rs119455954 rs119455955 rs56144125 rs119455956 rs28940573 rs119455957 rs119455958 rs755445790 rs121908197
Ask Dr. Hemsworth about this variant