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rs483352872

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs483352872(A;G)
Make rs483352872(G;G)
ReferenceGRCh38 38.1/142
Chromosome7
Position62535490
is asnp
is mentioned by
dbSNPrs483352872
ebirs483352872
HLIrs483352872
Exacrs483352872
Varsomers483352872
Maprs483352872
PheGenIrs483352872
hapmaprs483352872
1000 genomesrs483352872
hgdprs483352872
ensemblrs483352872
gopubmedrs483352872
geneviewrs483352872
scholarrs483352872
googlers483352872
pharmgkbrs483352872
gwascentralrs483352872
openSNPrs483352872
23andMers483352872
23andMe allrs483352872
SNP Nexus

SNPshotrs483352872
SNPdbers483352872
MSV3drs483352872
GWAS Ctlgrs483352872
Max Magnitude0
ClinVar
Risk rs483352872(G;G)
Alt rs483352872(G;G)
Reference rs483352872(A;A)
Significance Pathogenic
Disease Isolated growth hormone deficiency type 1B
Variation info
Gene
CLNDBN Isolated growth hormone deficiency type 1B
Reversed 0
HGVS NC_000007.13:g.61995868A>G
CLNSRC Seth G.S. Medical College and K.E.M. Hospital
CLNACC RCV000074399.1,