Congenital Myopathy
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Associated Genes (20)
Associated Variants (39)
| RSID | Gene | Evidence |
|---|---|---|
| RS118192170 | RYR1 | exploratory |
| RS374677022 | NEB | strong |
| RS1558081624 | ACTA1 | strong |
| RS1571893814 | ACTA1 | strong |
| RS1567819905 | SCN4A | strong |
| RS150550220 | ALG14 | strong |
| RS1595070689 | MYH7 | strong |
| RS777647151 | TRPV4 | strong |
| RS766502564 | MYPN | strong |
| RS2097887468 | NEB | strong |
| RS1373610867 | TTN | strong |
| RS773401224 | AP4E1 | strong |
| RS2527436164 | ACTA1 | strong |
| RS2527437105 | ACTA1 | strong |
| RS938886650 | ASCC3 | strong |
| RS2536700554 | JPH1 | strong |
| RS1808301220 | JPH1 | strong |
| RS2536591325 | JPH1 | strong |
| RS750665937 | ZFYVE26 | strong |
| RS777740921 | STAC3 | strong |
| RS143861818 | RYR1 | strong |
| RS137852801 | CHRNA1 | strong |
| RS387907196 | EXOSC3 | strong |
| RS367543049 | ACTA1 | strong |
| RS397516220 | MYH7 | strong |
| RS72648930 | TTN | strong |
| RS150993059 | RYR1 | strong |
| RS200546266 | RYR1 | strong |
| RS377178986 | RYR1 | strong |
| RS727505350 | TTN | strong |
| RS752903377 | TTN | strong |
| RS200513156 | TTN | strong |
| RS759713604 | TTN | strong |
| RS117687681 | CBS | strong |
| RS373813975 | COL6A2 | strong |
| RS769114543 | ALG14 | strong |
| RS1057524581 | NEB | strong |
| RS1060505038 | INPP5K | strong |
| RS149830411 | KANSL1 | strong |