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rs318240750

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs318240750(C;C)
Make rs318240750(C;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position2884119
GeneCDKN1C
is asnp
is mentioned by
dbSNPrs318240750
ebirs318240750
HLIrs318240750
Exacrs318240750
Varsomers318240750
Maprs318240750
PheGenIrs318240750
hapmaprs318240750
1000 genomesrs318240750
hgdprs318240750
ensemblrs318240750
gopubmedrs318240750
geneviewrs318240750
scholarrs318240750
googlers318240750
pharmgkbrs318240750
gwascentralrs318240750
openSNPrs318240750
23andMers318240750
23andMe allrs318240750
SNP Nexus

SNPshotrs318240750
SNPdbers318240750
MSV3drs318240750
GWAS Ctlgrs318240750
Max Magnitude0
ClinVar
Risk rs318240750(C,T;C,T)
Alt rs318240750(C,T;C,T)
Reference rs318240750(G;G)
Significance Pathogenic
Disease Russell-Silver syndrome Intrauterine growth retardation
Variation info
Gene CDKN1C
CLNDBN Russell-Silver syndrome Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies
Reversed 1
HGVS NC_000011.9:g.2905349C>A; NC_000011.9:g.2905349C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000172991.1, RCV000029185.3,