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rs1057517277

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GCACAGG;GCACAGG) 0 common in clinvar
Make rs1057517277(-;-)
Make rs1057517277(-;GCACAGG)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position179128118
GeneADAMTS2
is asnp
is mentioned by
dbSNPrs1057517277
dbSNP (old)rs1057517277
ClinGenrs1057517277
ebirs1057517277
HLIrs1057517277
Exacrs1057517277
Gnomadrs1057517277
Varsomers1057517277
Maprs1057517277
PheGenIrs1057517277
Biobankrs1057517277
1000 genomesrs1057517277
hgdprs1057517277
ensemblrs1057517277
gopubmedrs1057517277
geneviewrs1057517277
scholarrs1057517277
googlers1057517277
pharmgkbrs1057517277
gwascentralrs1057517277
openSNPrs1057517277
23andMers1057517277
23andMe allrs1057517277
SNPshotrs1057517277
SNPdbers1057517277
MSV3drs1057517277
GWAS Ctlgrs1057517277
Max Magnitude0
ClinVar
Risk rs1057517277(-;-)
Alt rs1057517277(-;-)
Reference Rs1057517277(GCACAGG;GCACAGG)
Significance Probable-Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene ADAMTS2
CLNDBN Ehlers-Danlos syndrome, type vii, autosomal recessive
Reversed 1
HGVS NC_000005.9:g.178555119_178555125delCCTGTGC
CLNSRC
CLNACC RCV000411325.1,