Variant (rsID / SNP)

rs6127

rs6127 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SELP. Location: chromosome 1, position 169,566,313. The table records no clinical significance for this variant.

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Reference-table entries

SELPNot classified

Variant type: missense_variant
Chromosome / position: 1:169566313
HGVS: NM_003005.4,c.1807G>A,p.Asp603Asn
Allele change: Missense_D603N

Associated conditions / phenotypes

Type 2 Diabetes Mellitus|Diabetes Mellitus|Thrombosis|Vascular Disease

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.