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rs137853221

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs137853221(A;G)
Make rs137853221(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position63917803
GeneGH1
is asnp
is mentioned by
dbSNPrs137853221
ebirs137853221
HLIrs137853221
Exacrs137853221
Varsomers137853221
Maprs137853221
PheGenIrs137853221
hapmaprs137853221
1000 genomesrs137853221
hgdprs137853221
ensemblrs137853221
gopubmedrs137853221
geneviewrs137853221
scholarrs137853221
googlers137853221
pharmgkbrs137853221
gwascentralrs137853221
openSNPrs137853221
23andMers137853221
23andMe allrs137853221
SNP Nexus

SNPshotrs137853221
SNPdbers137853221
MSV3drs137853221
GWAS Ctlgrs137853221
Max Magnitude0
OMIM139250
Desc
Variant0013
Relatedalso
ClinVar
Risk rs137853221(G;G)
Alt rs137853221(G;G)
Reference rs137853221(A;A)
Significance Pathogenic
Disease Kowarski syndrome
Variation info
Gene GH1
CLNDBN Kowarski syndrome
Reversed 1
HGVS NC_000017.10:g.61995163T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000017344.29,