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rs387907065

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387907065(C;T)
Make rs387907065(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position133540980
GeneADAMTSL2
is asnp
is mentioned by
dbSNPrs387907065
ebirs387907065
HLIrs387907065
Exacrs387907065
Varsomers387907065
Maprs387907065
PheGenIrs387907065
hapmaprs387907065
1000 genomesrs387907065
hgdprs387907065
ensemblrs387907065
gopubmedrs387907065
geneviewrs387907065
scholarrs387907065
googlers387907065
pharmgkbrs387907065
gwascentralrs387907065
openSNPrs387907065
23andMers387907065
23andMe allrs387907065
SNP Nexus

SNPshotrs387907065
SNPdbers387907065
MSV3drs387907065
GWAS Ctlgrs387907065
Max Magnitude0
ClinVar
Risk rs387907065(T;T)
Alt rs387907065(T;T)
Reference rs387907065(C;C)
Significance Pathogenic
Disease Geleophysic dysplasia 1
Variation info
Gene ADAMTSL2
CLNDBN Geleophysic dysplasia 1
Reversed 0
HGVS NC_000009.11:g.136406102C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000023934.2,