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rs113994125

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs113994125(A;A)
Make rs113994125(A;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position133570501
GeneADAMTSL2
is asnp
is mentioned by
dbSNPrs113994125
ebirs113994125
HLIrs113994125
Exacrs113994125
Varsomers113994125
Maprs113994125
PheGenIrs113994125
hapmaprs113994125
1000 genomesrs113994125
hgdprs113994125
ensemblrs113994125
gopubmedrs113994125
geneviewrs113994125
scholarrs113994125
googlers113994125
pharmgkbrs113994125
gwascentralrs113994125
openSNPrs113994125
23andMers113994125
23andMe allrs113994125
SNP Nexus

SNPshotrs113994125
SNPdbers113994125
MSV3drs113994125
GWAS Ctlgrs113994125
Max Magnitude0
OMIM612277
Desc
Variant0005
Relatedalso
ClinVar
Risk rs113994125(A;A)
Alt rs113994125(A;A)
Reference rs113994125(G;G)
Significance Pathogenic
Disease Geleophysic dysplasia 1
Variation info
Gene ADAMTSL2
CLNDBN Geleophysic dysplasia 1
Reversed 0
HGVS NC_000009.11:g.136435623G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000732.1,