Skip to main content
Fig. 3 | Hereditas

Fig. 3

From: SMPD1 expression profile and mutation landscape help decipher genotype–phenotype association and precision diagnosis for acid sphingomyelinase deficiency

Fig. 3

Pathogenic variants allele distribution. A Top 20 pathogenic variants in gnomAD. B Frequency of the pathogenic/likely pathogenic variants with population specificity in gnomAD. AAA, African/African American. AJ, Ashkenazi Jewish. EA, East Asian. ENF, European (non-Finnish). FIN, Finnish. LAA, Latino/Admixed American. SA, South Asian. C SMPD1 mutation allele frequency in two data sources. Huabiao, the public project database of whole exomes of the Chinese Han. EA, data from east Asia of the gnomAD

Back to article page