Variant (rsID / SNP)

rs148815814

rs148815814 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DSTYK. Location: chromosome 1, position 205,131,207. Clinical significance in the table: Uncertain significance.

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Reference-table entries

DSTYKUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 1:205131207
Cytoband: 1q32.1
HGVS: NM_015375.3(DSTYK):c.1775G>A (p.Arg592Gln)
Allele change: Missense_R592Q

Associated conditions / phenotypes

Congenital anomalies of kidney and urinary tract 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.