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rs387907224

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs387907224(C;C)
Make rs387907224(C;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position2884128
GeneCDKN1C
is asnp
is mentioned by
dbSNPrs387907224
dbSNP (classic)rs387907224
ClinGenrs387907224
ebirs387907224
HLIrs387907224
Exacrs387907224
Gnomadrs387907224
Varsomers387907224
LitVarrs387907224
Maprs387907224
PheGenIrs387907224
Biobankrs387907224
1000 genomesrs387907224
hgdprs387907224
ensemblrs387907224
geneviewrs387907224
scholarrs387907224
googlers387907224
pharmgkbrs387907224
gwascentralrs387907224
openSNPrs387907224
23andMers387907224
SNPshotrs387907224
SNPdbers387907224
MSV3drs387907224
GWAS Ctlgrs387907224
Max Magnitude0
ClinVar
Risk rs387907224(C;C)
Alt rs387907224(C;C)
Reference Rs387907224(T;T)
Significance Pathogenic
Disease Intrauterine growth retardation
Variation info
Gene CDKN1C
CLNDBN Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies
Reversed 1
HGVS NC_000011.9:g.2905358A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000029184.5,