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rs267607184

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267607184(A;A)
Make rs267607184(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position7172381
GeneINSR
is asnp
is mentioned by
dbSNPrs267607184
dbSNP (classic)rs267607184
ClinGenrs267607184
ebirs267607184
HLIrs267607184
Exacrs267607184
Gnomadrs267607184
Varsomers267607184
LitVarrs267607184
Maprs267607184
PheGenIrs267607184
Biobankrs267607184
1000 genomesrs267607184
hgdprs267607184
ensemblrs267607184
geneviewrs267607184
scholarrs267607184
googlers267607184
pharmgkbrs267607184
gwascentralrs267607184
openSNPrs267607184
23andMers267607184
SNPshotrs267607184
SNPdbers267607184
MSV3drs267607184
GWAS Ctlgrs267607184
Max Magnitude0
ClinVar
Risk rs267607184(A;A)
Alt rs267607184(A;A)
Reference Rs267607184(G;G)
Significance Pathogenic
Disease Leprechaunism syndrome
Variation info
Gene INSR
CLNDBN Leprechaunism syndrome
Reversed 1
HGVS NC_000019.9:g.7172392C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000015795.28,