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rs113994122

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs113994122(A;A)
Make rs113994122(A;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position133539799
GeneADAMTSL2
is asnp
is mentioned by
dbSNPrs113994122
ebirs113994122
HLIrs113994122
Exacrs113994122
Varsomers113994122
Maprs113994122
PheGenIrs113994122
hapmaprs113994122
1000 genomesrs113994122
hgdprs113994122
ensemblrs113994122
gopubmedrs113994122
geneviewrs113994122
scholarrs113994122
googlers113994122
pharmgkbrs113994122
gwascentralrs113994122
openSNPrs113994122
23andMers113994122
23andMe allrs113994122
SNP Nexus

SNPshotrs113994122
SNPdbers113994122
MSV3drs113994122
GWAS Ctlgrs113994122
Max Magnitude0
OMIM612277
Desc
Variant0002
Relatedalso
ClinVar
Risk rs113994122(A;A)
Alt rs113994122(A;A)
Reference rs113994122(G;G)
Significance Pathogenic
Disease Geleophysic dysplasia 1
Variation info
Gene ADAMTSL2
CLNDBN Geleophysic dysplasia 1
Reversed 0
HGVS NC_000009.11:g.136404921G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000729.1,