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rs121912501

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912501(C;T)
Make rs121912501(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position38496478
GeneLIFR
is asnp
is mentioned by
dbSNPrs121912501
ebirs121912501
HLIrs121912501
Exacrs121912501
Varsomers121912501
Maprs121912501
PheGenIrs121912501
hapmaprs121912501
1000 genomesrs121912501
hgdprs121912501
ensemblrs121912501
gopubmedrs121912501
geneviewrs121912501
scholarrs121912501
googlers121912501
pharmgkbrs121912501
gwascentralrs121912501
openSNPrs121912501
23andMers121912501
23andMe allrs121912501
SNP Nexus

SNPshotrs121912501
SNPdbers121912501
MSV3drs121912501
GWAS Ctlgrs121912501
GMAF0.0004591
Max Magnitude0
OMIM151443
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121912501(T;T)
Alt rs121912501(T;T)
Reference rs121912501(C;C)
Significance Pathogenic
Disease Stuve-Wiedemann syndrome
Variation info
Gene LIFR
CLNDBN Stuve-Wiedemann syndrome
Reversed 1
HGVS NC_000005.9:g.38496580G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000015546.26,