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rs886037952

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs886037952(C;G)
Make rs886037952(G;G)
ReferenceGRCh38.p7 38.3/149
Chromosome2
Position28776944
GenePPP1CB
is asnp
is mentioned by
dbSNPrs886037952
dbSNP (classic)rs886037952
ClinGenrs886037952
ebirs886037952
HLIrs886037952
Exacrs886037952
Gnomadrs886037952
Varsomers886037952
LitVarrs886037952
Maprs886037952
PheGenIrs886037952
Biobankrs886037952
1000 genomesrs886037952
hgdprs886037952
ensemblrs886037952
geneviewrs886037952
scholarrs886037952
googlers886037952
pharmgkbrs886037952
gwascentralrs886037952
openSNPrs886037952
23andMers886037952
SNPshotrs886037952
SNPdbers886037952
MSV3drs886037952
GWAS Ctlgrs886037952
Max Magnitude0
ClinVar
Risk rs886037952(G;G)
Alt rs886037952(G;G)
Reference Rs886037952(C;C)
Significance Pathogenic
Disease not provided Noonan syndrome-like disorder with loose anagen hair 2
Variation info
Gene PPP1CB
CLNDBN not provided Noonan syndrome-like disorder with loose anagen hair 2
Reversed 0
HGVS NC_000002.11:g.28999810C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000257986.1, RCV000490622.1,