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rs137853220

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137853220(C;T)
Make rs137853220(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position63917909
GeneGH1
is asnp
is mentioned by
dbSNPrs137853220
ebirs137853220
HLIrs137853220
Exacrs137853220
Varsomers137853220
Maprs137853220
PheGenIrs137853220
hapmaprs137853220
1000 genomesrs137853220
hgdprs137853220
ensemblrs137853220
gopubmedrs137853220
geneviewrs137853220
scholarrs137853220
googlers137853220
pharmgkbrs137853220
gwascentralrs137853220
openSNPrs137853220
23andMers137853220
23andMe allrs137853220
SNP Nexus

SNPshotrs137853220
SNPdbers137853220
MSV3drs137853220
GWAS Ctlgrs137853220
Max Magnitude0
OMIM139250
Desc
Variant0008
Relatedalso
ClinVar
Risk rs137853220(T;T)
Alt rs137853220(T;T)
Reference rs137853220(C;C)
Significance Pathogenic
Disease Kowarski syndrome
Variation info
Gene GH1
CLNDBN Kowarski syndrome
Reversed 1
HGVS NC_000017.10:g.61995269G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000017339.26,