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rs5030980

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs5030980(A;A)
Make rs5030980(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position67483042
GeneAGRP, ATP6V0D1
is asnp
is mentioned by
dbSNPrs5030980
ebirs5030980
HLIrs5030980
Exacrs5030980
Varsomers5030980
Maprs5030980
PheGenIrs5030980
hapmaprs5030980
1000 genomesrs5030980
hgdprs5030980
ensemblrs5030980
gopubmedrs5030980
geneviewrs5030980
scholarrs5030980
googlers5030980
pharmgkbrs5030980
gwascentralrs5030980
openSNPrs5030980
23andMers5030980
23andMe allrs5030980
SNP Nexus

SNPshotrs5030980
SNPdbers5030980
MSV3drs5030980
GWAS Ctlgrs5030980
Merged fromRs28937570
GMAF0.02388
Max Magnitude0
? (A;A) (A;G) (G;G) 28
[PMID 19602223OA-icon.png] Association between a rare SNP in the second intron of human Agouti related protein gene and increased BMI
OMIM602311
Desc
Variant0001
Relatedalso


ClinVar
Risk rs5030980(A;A)
Alt rs5030980(A;A)
Reference rs5030980(G;G)
Significance Other
Disease Obesity Leanness
Variation info
Gene ATP6V0D1 LOC101927837 AGRP
CLNDBN Obesity, late-onset Leanness, inherited
Reversed 1
HGVS NC_000016.9:g.67516945C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000007753.1, RCV000007754.2,



[PMID 17357083OA-icon.png] Medical sequencing at the extremes of human body mass.


GET Evidence
AGRP-A67T
aa_change Ala67Thr
aa_change_short A67T
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.030303
summary