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rs104894100

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104894100(C;C)
Make rs104894100(C;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position136673906
GeneAGPAT2
is asnp
is mentioned by
dbSNPrs104894100
ebirs104894100
HLIrs104894100
Exacrs104894100
Varsomers104894100
Maprs104894100
PheGenIrs104894100
hapmaprs104894100
1000 genomesrs104894100
hgdprs104894100
ensemblrs104894100
gopubmedrs104894100
geneviewrs104894100
scholarrs104894100
googlers104894100
pharmgkbrs104894100
gwascentralrs104894100
openSNPrs104894100
23andMers104894100
23andMe allrs104894100
SNP Nexus

SNPshotrs104894100
SNPdbers104894100
MSV3drs104894100
GWAS Ctlgrs104894100
Max Magnitude0
OMIM603100
Desc
Variant0004
Relatedalso
ClinVar
Risk rs104894100(C;C)
Alt rs104894100(C;C)
Reference rs104894100(T;T)
Significance Pathogenic
Disease Congenital generalized lipodystrophy type 1
Variation info
Gene AGPAT2
CLNDBN Congenital generalized lipodystrophy type 1
Reversed 1
HGVS NC_000009.11:g.139568358A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000007006.3,