RS1110400 MC1R
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What This Variant Does
"CLNSIG=5
Associated Conditions
Melanoma
cutaneous malignant
susceptibility to
5
SKIN/HAIR/EYE PIGMENTATION
VARIATION IN
2
Tyrosinase-positive oculocutaneous albinism
Increased analgesia from kappa-opioid receptor agonist
female-specific
Melanoma
cutaneous malignant
susceptibility to
5
SKIN/HAIR/EYE PIGMENTATION
GWAS Studies (2)
Population Frequencies
gnomAD ALL
1%
1kG AFR
100%
1kG ALL
99.7%
1kG AMR
99.1%
1kG EAS
100%
1kG EUR
99.2%
1kG SAS
99.8%
Other Variants in MC1R