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rs113994121

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs113994121(C;T)
Make rs113994121(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position133540625
GeneADAMTSL2
is asnp
is mentioned by
dbSNPrs113994121
ebirs113994121
HLIrs113994121
Exacrs113994121
Varsomers113994121
Maprs113994121
PheGenIrs113994121
hapmaprs113994121
1000 genomesrs113994121
hgdprs113994121
ensemblrs113994121
gopubmedrs113994121
geneviewrs113994121
scholarrs113994121
googlers113994121
pharmgkbrs113994121
gwascentralrs113994121
openSNPrs113994121
23andMers113994121
23andMe allrs113994121
SNP Nexus

SNPshotrs113994121
SNPdbers113994121
MSV3drs113994121
GWAS Ctlgrs113994121
Max Magnitude0
OMIM612277
Desc
Variant0001
Relatedalso
ClinVar
Risk rs113994121(T;T)
Alt rs113994121(T;T)
Reference rs113994121(C;C)
Significance Pathogenic
Disease Geleophysic dysplasia 1
Variation info
Gene ADAMTSL2
CLNDBN Geleophysic dysplasia 1
Reversed 0
HGVS NC_000009.11:g.136405747C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000728.1,