Variant (rsID / SNP)

rs220146

rs220146 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to UMODL1. Location: chromosome 21, position 43,539,293. The table records no clinical significance for this variant.

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Reference-table entries

UMODL1Not classified

Variant type: missense_variant
Chromosome / position: 21:43539293
HGVS: NM_173568.4,c.2932G>A,p.Val978Ile
Allele change: Missense_V778I

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.