Variant summary
V
Location
GRCh38: 19:48,703,728
GRCh37: 19:49,206,985
Reference allele: G
Alternative allele (effect allele): A

Neighbourhood
Nearest gene (7,757 bp to canonical TSS): FUT2
Nearest coding gene (7,757 bp to canonical TSS): FUT2

Variant Effect Predictor (VEP)
Most severe consequence: missense variant

Combined Annotation Dependent Depletion (CADD)
raw: 2.48scaled: 22.5
Population allele frequencies
African/African-American
0.499
Latino/Admixed American
0.314
Ashkenazi Jewish
0.455
East Asian
0.00193
Finnish
0.412
Non-Finnish European
0.478
Non-Finnish European Estonian
0.374
Non-Finnish European North-Western European
0.527
Non-Finnish European Southern European
0.538
Other (population not assigned)
0.409

Assigned genes
Which genes are functionally implicated by this variant?
VG
...

PheWAS
Which traits are associated with this variant in the UK Biobank, FinnGen, and/or GWAS Catalog summary statistics repository? Only traits with P-value < 0.005 are returned
SV
Download table as
Study IDTraitTrait CategoryP-valueBetaOdds RatioPMIDAuthor (Year)N CasesN OverallHas sumstats

None

None

0-0 of 0


GWAS lead variants
Which GWAS lead variants are linked with this variant?
SVLVT
Download table as
Lead VariantLead Variant rsIDTag VariantStudy IDTraitLead Variant P-valueBetaOdds Ratio95% Confidence IntervalPMIDAuthor (Year)Study NLD (r²)Is in 95% Credible SetHas sumstatsView

0-0 of 0


Tag variants
Which variants tag (through LD or fine-mapping) this lead variant?
SVLVT
Download table as
Lead VariantTag VariantTag Variant rsIDStudy IDTraitLead Variant P-valuePMIDAuthor (Year)Study NLD (r²)Posterior ProbabilityHas sumstats

0-0 of 0