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rs768825050

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs768825050(C;T)
Make rs768825050(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position83204849
GeneXRCC4
is asnp
is mentioned by
dbSNPrs768825050
ebirs768825050
HLIrs768825050
Exacrs768825050
Varsomers768825050
Maprs768825050
PheGenIrs768825050
hapmaprs768825050
1000 genomesrs768825050
hgdprs768825050
ensemblrs768825050
gopubmedrs768825050
geneviewrs768825050
scholarrs768825050
googlers768825050
pharmgkbrs768825050
gwascentralrs768825050
openSNPrs768825050
23andMers768825050
23andMe allrs768825050
SNP Nexus

SNPshotrs768825050
SNPdbers768825050
MSV3drs768825050
GWAS Ctlgrs768825050
Max Magnitude0
ClinVar
Risk rs768825050(T;T)
Alt rs768825050(T;T)
Reference rs768825050(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.82500668C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000190525.2,