RS139192433 SH3TC2

Health Risk Chr 5:149008948 snv missense variant
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Associated Conditions
Susceptibility to mononeuropathy of the median nerve
mild
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4C
Charcot-Marie-Tooth disease
Tip-toe gait
Delayed speech and language development
Pes cavus
limited range of motion of the upper ankle
Inborn genetic diseases
SH3TC2-related disorder
Susceptibility to mononeuropathy of the median nerve
mild
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4C
Population Frequencies
gnomAD ALL
99.8%
1kG AFR
100%
1kG ALL
0%
1kG AMR
100%
1kG EAS
100%
1kG EUR
99.8%
1kG SAS
100%
Other Variants in SH3TC2
rs80338923 rs80338924 rs80338920 rs80338932 rs80338933 rs80338934 rs80359890 rs80338922 rs80338925 rs80338926
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