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rs3729751

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs3729751(C;T)
Make rs3729751(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position38481601
GeneLIFR
is asnp
is mentioned by
dbSNPrs3729751
dbSNP (classic)rs3729751
ClinGenrs3729751
ebirs3729751
HLIrs3729751
Exacrs3729751
Gnomadrs3729751
Varsomers3729751
LitVarrs3729751
Maprs3729751
PheGenIrs3729751
Biobankrs3729751
1000 genomesrs3729751
hgdprs3729751
ensemblrs3729751
geneviewrs3729751
scholarrs3729751
googlers3729751
pharmgkbrs3729751
gwascentralrs3729751
openSNPrs3729751
23andMers3729751
SNPshotrs3729751
SNPdbers3729751
MSV3drs3729751
GWAS Ctlgrs3729751
Max Magnitude0
ClinVar
Risk rs3729751(A;A) rs3729751(T;T)
Alt rs3729751(A;A) rs3729751(T;T)
Reference Rs3729751(C;C)
Significance Probable-Pathogenic
Disease not specified Stuve-Wiedemann syndrome Congenital anomalies of kidney and urinary tract
Variation info
Gene LIFR
CLNDBN not specified Stuve-Wiedemann syndrome Congenital anomalies of kidney and urinary tract
Reversed 1
HGVS NC_000005.9:g.38481703G>A; NC_000005.9:g.38481703G>T
CLNSRC
CLNACC RCV000176060.1, RCV000294789.1, RCV000326373.1, RCV000490985.1,