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Variant (rsID / SNP)

rs3748816

MMEL1

rs3748816 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MMEL1. Location: chromosome 1, position 2,526,746. The table records no clinical significance for this variant.

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Reference-table entries

MMEL1Not classified
Variant type
missense_variant
Chromosome / position
1:2526746
HGVS
NM_033467.4,c.1553T>C,p.Met518Thr
Allele change
Missense_M518T

Associated conditions / phenotypes

Multiple Sclerosis|Sclerosing Cholangitis|Cholangitis, Primary Sclerosing|Cholangitis

Public references

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