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rs387907064

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387907064(A;A)
Make rs387907064(A;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position133537529
GeneADAMTSL2
is asnp
is mentioned by
dbSNPrs387907064
ebirs387907064
HLIrs387907064
Exacrs387907064
Varsomers387907064
Maprs387907064
PheGenIrs387907064
hapmaprs387907064
1000 genomesrs387907064
hgdprs387907064
ensemblrs387907064
gopubmedrs387907064
geneviewrs387907064
scholarrs387907064
googlers387907064
pharmgkbrs387907064
gwascentralrs387907064
openSNPrs387907064
23andMers387907064
23andMe allrs387907064
SNP Nexus

SNPshotrs387907064
SNPdbers387907064
MSV3drs387907064
GWAS Ctlgrs387907064
Max Magnitude0
ClinVar
Risk rs387907064(A;A)
Alt rs387907064(A;A)
Reference rs387907064(G;G)
Significance Pathogenic
Disease Geleophysic dysplasia 1
Variation info
Gene ADAMTSL2
CLNDBN Geleophysic dysplasia 1
Reversed 0
HGVS NC_000009.11:g.136402651G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000023933.2,