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rs1799816

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1799816(A;A)
Make rs1799816(A;G)
ReferenceGRCh38 38.1/142
Chromosome19
Position7125507
GeneINSR
is asnp
is mentioned by
dbSNPrs1799816
dbSNP (classic)rs1799816
ClinGenrs1799816
ebirs1799816
HLIrs1799816
Exacrs1799816
Gnomadrs1799816
Varsomers1799816
LitVarrs1799816
Maprs1799816
PheGenIrs1799816
Biobankrs1799816
1000 genomesrs1799816
hgdprs1799816
ensemblrs1799816
geneviewrs1799816
scholarrs1799816
googlers1799816
pharmgkbrs1799816
gwascentralrs1799816
openSNPrs1799816
23andMers1799816
SNPshotrs1799816
SNPdbers1799816
MSV3drs1799816
GWAS Ctlgrs1799816
GMAF0.003673
Max Magnitude0
OMIM147670
Desc
Variant0029
Relatedalso
ClinVar
Risk rs1799816(A;A)
Alt rs1799816(A;A)
Reference Rs1799816(G;G)
Significance Other
Disease Diabetes mellitus type 2 not specified Insulin-resistant diabetes mellitus AND acanthosis nigricans Monogenic diabetes
Variation info
Gene INSR
CLNDBN Diabetes mellitus type 2 not specified Insulin-resistant diabetes mellitus AND acanthosis nigricans Monogenic diabetes
Reversed 1
HGVS NC_000019.9:g.7125518C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000015822.28, RCV000175131.2, RCV000344820.1, RCV000445519.1,