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rs137853222

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137853222(C;C)
Make rs137853222(C;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position63918072
GeneGH1
is asnp
is mentioned by
dbSNPrs137853222
ebirs137853222
HLIrs137853222
Exacrs137853222
Varsomers137853222
Maprs137853222
PheGenIrs137853222
hapmaprs137853222
1000 genomesrs137853222
hgdprs137853222
ensemblrs137853222
gopubmedrs137853222
geneviewrs137853222
scholarrs137853222
googlers137853222
pharmgkbrs137853222
gwascentralrs137853222
openSNPrs137853222
23andMers137853222
23andMe allrs137853222
SNP Nexus

SNPshotrs137853222
SNPdbers137853222
MSV3drs137853222
GWAS Ctlgrs137853222
Max Magnitude0
OMIM139250
Desc
Variant0021
Relatedalso
ClinVar
Risk rs137853222(C,T;C,T)
Alt rs137853222(C,T;C,T)
Reference rs137853222(G;G)
Significance Pathogenic
Disease Kowarski syndrome
Variation info
Gene GH1
CLNDBN Kowarski syndrome
Reversed 1
HGVS NC_000017.10:g.61995432C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000017351.28,