Have questions? Visit https://www.reddit.com/r/SNPedia

rs1057517272

From SNPedia
Revision as of 19:30, 23 July 2017 by JlickBot (talk | contribs) (Update Rsnum - Set: Chromosome geno1 geno2 geno3 Gene position Gene_s Assembly GenomeBuild dbSNPBuild)
(diff) ← Older revision | Latest revision (diff) | Newer revision → (diff)

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517272(C;C)
Make rs1057517272(C;G)
ReferenceGRCh38.p7 38.3/150
Chromosome18
Position23949764
GeneLAMA3
is asnp
is mentioned by
dbSNPrs1057517272
dbSNP (classic)rs1057517272
ClinGenrs1057517272
ebirs1057517272
HLIrs1057517272
Exacrs1057517272
Gnomadrs1057517272
Varsomers1057517272
LitVarrs1057517272
Maprs1057517272
PheGenIrs1057517272
Biobankrs1057517272
1000 genomesrs1057517272
hgdprs1057517272
ensemblrs1057517272
geneviewrs1057517272
scholarrs1057517272
googlers1057517272
pharmgkbrs1057517272
gwascentralrs1057517272
openSNPrs1057517272
23andMers1057517272
SNPshotrs1057517272
SNPdbers1057517272
MSV3drs1057517272
GWAS Ctlgrs1057517272
Max Magnitude0
ClinVar
Risk rs1057517272(C;C)
Alt rs1057517272(C;C)
Reference Rs1057517272(G;G)
Significance Probable-Pathogenic
Disease Junctional epidermolysis bullosa gravis of Herlitz
Variation info
Gene LAMA3
CLNDBN Junctional epidermolysis bullosa gravis of Herlitz
Reversed 0
HGVS NC_000018.9:g.21529728G>C
CLNSRC
CLNACC RCV000412368.1,


Retrieved from "https://www.SNPedia.com/index.php?title=Rs1057517272&oldid=1435976"
Powered by MediaWiki
Powered by Semantic MediaWiki
Powered by the NCBI