Variant (rsID / SNP)

rs702689

rs702689 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MAP3K1. Location: chromosome 5, position 56,177,443. Clinical significance in the table: Benign.

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Reference-table entries

MAP3K1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 5:56177443
Cytoband: 5q11.2
HGVS: NM_005921.2(MAP3K1):c.2416G>A (p.Asp806Asn)
Allele change: Missense_D806N

Associated conditions / phenotypes

46,XY sex reversal 6

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.