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rs797045016

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs797045016(C;T)
Make rs797045016(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position83258607
GeneXRCC4
is asnp
is mentioned by
dbSNPrs797045016
ebirs797045016
HLIrs797045016
Exacrs797045016
Varsomers797045016
Maprs797045016
PheGenIrs797045016
hapmaprs797045016
1000 genomesrs797045016
hgdprs797045016
ensemblrs797045016
gopubmedrs797045016
geneviewrs797045016
scholarrs797045016
googlers797045016
pharmgkbrs797045016
gwascentralrs797045016
openSNPrs797045016
23andMers797045016
23andMe allrs797045016
SNP Nexus

SNPshotrs797045016
SNPdbers797045016
MSV3drs797045016
GWAS Ctlgrs797045016
Max Magnitude0
ClinVar
Risk rs797045016(T;T)
Alt rs797045016(T;T)
Reference rs797045016(C;C)
Significance Pathogenic
Disease Short stature
Variation info
Gene XRCC4
CLNDBN Short stature, microcephaly, and endocrine dysfunction
Reversed 0
HGVS NC_000005.9:g.82554426C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000190523.2,