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rs113994123

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs113994123(A;A)
Make rs113994123(A;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position133539801
GeneADAMTSL2
is asnp
is mentioned by
dbSNPrs113994123
ebirs113994123
HLIrs113994123
Exacrs113994123
Varsomers113994123
Maprs113994123
PheGenIrs113994123
hapmaprs113994123
1000 genomesrs113994123
hgdprs113994123
ensemblrs113994123
gopubmedrs113994123
geneviewrs113994123
scholarrs113994123
googlers113994123
pharmgkbrs113994123
gwascentralrs113994123
openSNPrs113994123
23andMers113994123
23andMe allrs113994123
SNP Nexus

SNPshotrs113994123
SNPdbers113994123
MSV3drs113994123
GWAS Ctlgrs113994123
Max Magnitude0
OMIM612277
Desc
Variant0003
Relatedalso
ClinVar
Risk rs113994123(A;A)
Alt rs113994123(A;A)
Reference rs113994123(G;G)
Significance Pathogenic
Disease Geleophysic dysplasia 1
Variation info
Gene ADAMTSL2
CLNDBN Geleophysic dysplasia 1
Reversed 0
HGVS NC_000009.11:g.136404923G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000730.1,