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rs587779351

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587779351(C;C)
Make rs587779351(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position83105046
GeneXRCC4
is asnp
is mentioned by
dbSNPrs587779351
ebirs587779351
HLIrs587779351
Exacrs587779351
Varsomers587779351
Maprs587779351
PheGenIrs587779351
hapmaprs587779351
1000 genomesrs587779351
hgdprs587779351
ensemblrs587779351
gopubmedrs587779351
geneviewrs587779351
scholarrs587779351
googlers587779351
pharmgkbrs587779351
gwascentralrs587779351
openSNPrs587779351
23andMers587779351
23andMe allrs587779351
SNP Nexus

SNPshotrs587779351
SNPdbers587779351
MSV3drs587779351
GWAS Ctlgrs587779351
Max Magnitude0
ClinVar
Risk rs587779351(C;C)
Alt rs587779351(C;C)
Reference rs587779351(T;T)
Significance Pathogenic
Disease Ateleiotic dwarfism Short stature
Variation info
Gene XRCC4
CLNDBN Ateleiotic dwarfism Short stature, microcephaly, and endocrine dysfunction
Reversed 0
HGVS NC_000005.9:g.82400865T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000115044.1, RCV000190521.3,