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rs113994124

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs113994124(A;A)
Make rs113994124(A;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position133570346
GeneADAMTSL2
is asnp
is mentioned by
dbSNPrs113994124
ebirs113994124
HLIrs113994124
Exacrs113994124
Varsomers113994124
Maprs113994124
PheGenIrs113994124
hapmaprs113994124
1000 genomesrs113994124
hgdprs113994124
ensemblrs113994124
gopubmedrs113994124
geneviewrs113994124
scholarrs113994124
googlers113994124
pharmgkbrs113994124
gwascentralrs113994124
openSNPrs113994124
23andMers113994124
23andMe allrs113994124
SNP Nexus

SNPshotrs113994124
SNPdbers113994124
MSV3drs113994124
GWAS Ctlgrs113994124
Max Magnitude0
OMIM612277
Desc
Variant0004
Relatedalso
ClinVar
Risk rs113994124(A;A)
Alt rs113994124(A;A)
Reference rs113994124(G;G)
Significance Pathogenic
Disease Geleophysic dysplasia 1
Variation info
Gene ADAMTSL2
CLNDBN Geleophysic dysplasia 1
Reversed 0
HGVS NC_000009.11:g.136435468G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000731.1,