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rs52836744

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in complete genomics
(G;G) 0 common in clinvar
Make rs52836744(A;A)
Make rs52836744(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position7267825
GeneINSR
is asnp
is mentioned by
dbSNPrs52836744
ebirs52836744
HLIrs52836744
Exacrs52836744
Varsomers52836744
Maprs52836744
PheGenIrs52836744
hapmaprs52836744
1000 genomesrs52836744
hgdprs52836744
ensemblrs52836744
gopubmedrs52836744
geneviewrs52836744
scholarrs52836744
googlers52836744
pharmgkbrs52836744
gwascentralrs52836744
openSNPrs52836744
23andMers52836744
23andMe allrs52836744
SNP Nexus

SNPshotrs52836744
SNPdbers52836744
MSV3drs52836744
GWAS Ctlgrs52836744
Max Magnitude0
OMIM147670
Desc
Variant0020
Relatedalso
ClinVar
Risk rs52836744(A;A)
Alt rs52836744(A;A)
Reference rs52836744(G;G)
Significance Pathogenic
Disease Leprechaunism syndrome
Variation info
Gene INSR
CLNDBN Leprechaunism syndrome
Reversed 1
HGVS NC_000019.9:g.7267836C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000015814.28,