Have questions? Visit https://www.reddit.com/r/SNPedia

rs886037954

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs886037954(A;T)
Make rs886037954(T;T)
ReferenceGRCh38.p7 38.3/149
Chromosome2
Position28783934
GenePPP1CB
is asnp
is mentioned by
dbSNPrs886037954
dbSNP (classic)rs886037954
ClinGenrs886037954
ebirs886037954
HLIrs886037954
Exacrs886037954
Gnomadrs886037954
Varsomers886037954
LitVarrs886037954
Maprs886037954
PheGenIrs886037954
Biobankrs886037954
1000 genomesrs886037954
hgdprs886037954
ensemblrs886037954
geneviewrs886037954
scholarrs886037954
googlers886037954
pharmgkbrs886037954
gwascentralrs886037954
openSNPrs886037954
23andMers886037954
SNPshotrs886037954
SNPdbers886037954
MSV3drs886037954
GWAS Ctlgrs886037954
Max Magnitude0
ClinVar
Risk rs886037954(C;C) rs886037954(T;T)
Alt rs886037954(C;C) rs886037954(T;T)
Reference Rs886037954(A;A)
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.29006800A>C; NC_000002.11:g.29006800A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000257936.1, RCV000490621.1, RCV000257978.1, RCV000490623.1,