Variant (rsID / SNP)

rs144844035

rs144844035 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GLIS2. Location: chromosome 16, position 4,384,961. Clinical significance in the table: Uncertain significance.

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Reference-table entries

GLIS2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 16:4384961
Cytoband: 16p13.3
HGVS: NM_032575.3(GLIS2):c.505G>A (p.Val169Met)
Allele change: Missense_V169M

Associated conditions / phenotypes

Nephronophthisis 7

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.