RS139063843 PHGDH

Health Risk Chr 1:119735332 snv missense variant
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Associated Conditions
PHGDH deficiency
Neu-Laxova syndrome 1
PHGDH-related disorder
Clear cell carcinoma of kidney
Malignant tumor of esophagus
Cervical cancer
PHGDH deficiency
Neu-Laxova syndrome 1
PHGDH-related disorder
Clear cell carcinoma of kidney
Malignant tumor of esophagus
Cervical cancer
Population Frequencies
gnomAD ALL
99.9%
1kG AFR
99.9%
1kG ALL
0.1%
1kG AMR
100%
1kG EAS
100%
1kG EUR
0.2%
1kG SAS
100%
Other Variants in PHGDH
rs121907987 rs121907988 rs730882181 rs267606949 rs267606948 rs267606947 rs587777770 rs587777483 rs587777774 rs886041874
Ask Dr. Hemsworth about this variant