RS139497493 IGHMBP2

Health Risk Chr 11:68914900 snv missense variant
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Associated Conditions
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Population Frequencies
gnomAD ALL
0%
1kG AFR
0.3%
1kG ALL
99.9%
1kG AMR
100%
1kG EAS
100%
1kG EUR
100%
1kG SAS
100%
Other Variants in IGHMBP2
rs137852665 rs137852666 rs137852667 rs137852668 rs786205089 rs137852669 rs786205090 rs137852670 rs372000714 rs724159994
Ask Dr. Hemsworth about this variant