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rs2229089

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs2229089(C;T)
Make rs2229089(T;T)
ReferenceGRCh38.p7 38.3/149
Chromosome3
Position14173024
GeneXPC
is asnp
is mentioned by
dbSNPrs2229089
dbSNP (classic)rs2229089
ClinGenrs2229089
ebirs2229089
HLIrs2229089
Exacrs2229089
Gnomadrs2229089
Varsomers2229089
LitVarrs2229089
Maprs2229089
PheGenIrs2229089
Biobankrs2229089
1000 genomesrs2229089
hgdprs2229089
ensemblrs2229089
geneviewrs2229089
scholarrs2229089
googlers2229089
pharmgkbrs2229089
gwascentralrs2229089
openSNPrs2229089
23andMers2229089
23andMe allrs2229089
SNPshotrs2229089
SNPdbers2229089
MSV3drs2229089
GWAS Ctlgrs2229089
Max Magnitude0

[PMID 28146470OA-icon.png] Rare and low-frequency coding variants alter human adult height.

ClinVar
Risk rs2229089(T;T)
Alt rs2229089(T;T)
Reference Rs2229089(C;C)
Significance Probable-non-pathogenic
Disease not specified Xeroderma pigmentosum
Variation info
Gene XPC
CLNDBN not specified Xeroderma pigmentosum
Reversed 1
HGVS NC_000003.11:g.14214524G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000122333.1, RCV000348650.1,