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rs1013079991

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position62692475
GeneBSCL2, HNRNPUL2-BSCL2
is asnp
is mentioned by
dbSNPrs1013079991
dbSNP (old)rs1013079991
ClinGenrs1013079991
ebirs1013079991
HLIrs1013079991
Exacrs1013079991
Gnomadrs1013079991
Varsomers1013079991
Maprs1013079991
PheGenIrs1013079991
Biobankrs1013079991
1000 genomesrs1013079991
hgdprs1013079991
ensemblrs1013079991
gopubmedrs1013079991
geneviewrs1013079991
scholarrs1013079991
googlers1013079991
pharmgkbrs1013079991
gwascentralrs1013079991
openSNPrs1013079991
23andMers1013079991
23andMe allrs1013079991
SNPshotrs1013079991
SNPdbers1013079991
MSV3drs1013079991
GWAS Ctlgrs1013079991
Max Magnitude0
ClinVar
Risk rs1013079991(C;C)
Alt rs1013079991(C;C)
Reference Rs1013079991(T;T)
Significance Pathogenic
Disease Congenital generalized lipodystrophy type 2
Variation info
Gene
CLNDBN Congenital generalized lipodystrophy type 2
Reversed 0
HGVS NC_000011.9:g.62459947T>C
CLNSRC
CLNACC RCV000412607.1,