Variant (rsID / SNP)

rs4917

rs4917 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AHSG. Location: chromosome 3, position 186,337,713. Clinical significance in the table: Benign.

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Reference-table entries

AHSGBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 3:186337713
Cytoband: 3q27.3
HGVS: NM_001622.4(AHSG):c.743T>C (p.Met248Thr)
Allele change: Missense_M247T

Associated conditions / phenotypes

Leanness, susceptibility to|Alopecia-intellectual disability syndrome 1

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.