RS1057519327 MITF

Health Risk Chr 3:69956454
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What This Variant Does
"CLNSIG=5
Associated Conditions
Coloboma
osteopetrosis
microphthalmia
macrocephaly
albinism
and deafness
Waardenburg syndrome type 2A
Melanoma
cutaneous malignant
susceptibility to
8
Tietz syndrome
Coloboma
osteopetrosis
microphthalmia
Other Variants in MITF
rs1553701477 rs1553703612 rs1553704814 rs104893744 rs1553705282 rs104893745 rs104893746 rs149617956 rs869025259 rs373660547
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