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rs786205239

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs786205239(AA;AA)
Make rs786205239(AA;G)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position2884859
GeneCDKN1C
is asnp
is mentioned by
dbSNPrs786205239
ebirs786205239
HLIrs786205239
Exacrs786205239
Varsomers786205239
Maprs786205239
PheGenIrs786205239
hapmaprs786205239
1000 genomesrs786205239
hgdprs786205239
ensemblrs786205239
gopubmedrs786205239
geneviewrs786205239
scholarrs786205239
googlers786205239
pharmgkbrs786205239
gwascentralrs786205239
openSNPrs786205239
23andMers786205239
23andMe allrs786205239
SNP Nexus

SNPshotrs786205239
SNPdbers786205239
MSV3drs786205239
GWAS Ctlgrs786205239
Max Magnitude0
ClinVar
Risk rs786205239(AA;AA)
Alt rs786205239(AA;AA)
Reference rs786205239(G;G)
Significance Pathogenic
Disease Beckwith-Wiedemann syndrome
Variation info
Gene CDKN1C
CLNDBN Beckwith-Wiedemann syndrome
Reversed 1
HGVS NC_000011.9:g.2906089delCinsTT
CLNSRC
CLNACC RCV000172985.1,