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rs863225047

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs863225047(C;G)
Make rs863225047(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position38489243
GeneLIFR
is asnp
is mentioned by
dbSNPrs863225047
ebirs863225047
HLIrs863225047
Exacrs863225047
Varsomers863225047
Maprs863225047
PheGenIrs863225047
hapmaprs863225047
1000 genomesrs863225047
hgdprs863225047
ensemblrs863225047
gopubmedrs863225047
geneviewrs863225047
scholarrs863225047
googlers863225047
pharmgkbrs863225047
gwascentralrs863225047
openSNPrs863225047
23andMers863225047
23andMe allrs863225047
SNP Nexus

SNPshotrs863225047
SNPdbers863225047
MSV3drs863225047
GWAS Ctlgrs863225047
Max Magnitude0
ClinVar
Risk rs863225047(G;G)
Alt rs863225047(G;G)
Reference rs863225047(C;C)
Significance Pathogenic
Disease Stuve-Wiedemann syndrome
Variation info
Gene LIFR
CLNDBN Stuve-Wiedemann syndrome
Reversed 1
HGVS NC_000005.9:g.38489345G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000201229.2,