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rs753856820

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs753856820(G;T)
Make rs753856820(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position25164783
GenePOMC
is asnp
is mentioned by
dbSNPrs753856820
dbSNP (old)rs753856820
ClinGenrs753856820
ebirs753856820
HLIrs753856820
Exacrs753856820
Gnomadrs753856820
Varsomers753856820
Maprs753856820
PheGenIrs753856820
Biobankrs753856820
1000 genomesrs753856820
hgdprs753856820
ensemblrs753856820
gopubmedrs753856820
geneviewrs753856820
scholarrs753856820
googlers753856820
pharmgkbrs753856820
gwascentralrs753856820
openSNPrs753856820
23andMers753856820
23andMe allrs753856820
SNP Nexus

SNPshotrs753856820
SNPdbers753856820
MSV3drs753856820
GWAS Ctlgrs753856820
Max Magnitude0
[PMID 27569544OA-icon.png] A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease. This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
ClinVar
Risk rs753856820(T;T)
Alt rs753856820(T;T)
Reference Rs753856820(G;G)
Significance Pathogenic
Disease Proopiomelanocortin deficiency
Variation info
Gene POMC
CLNDBN Proopiomelanocortin deficiency
Reversed 0
HGVS NC_000002.11:g.25387652G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000014283.19,