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rs1057517511

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057517511(-;GTTAT)
Make rs1057517511(GTTAT;GTTAT)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position149981134
GeneSLC26A2
is asnp
is mentioned by
dbSNPrs1057517511
dbSNP (old)rs1057517511
ClinGenrs1057517511
ebirs1057517511
HLIrs1057517511
Exacrs1057517511
Gnomadrs1057517511
Varsomers1057517511
Maprs1057517511
PheGenIrs1057517511
Biobankrs1057517511
1000 genomesrs1057517511
hgdprs1057517511
ensemblrs1057517511
gopubmedrs1057517511
geneviewrs1057517511
scholarrs1057517511
googlers1057517511
pharmgkbrs1057517511
gwascentralrs1057517511
openSNPrs1057517511
23andMers1057517511
23andMe allrs1057517511
SNPshotrs1057517511
SNPdbers1057517511
MSV3drs1057517511
GWAS Ctlgrs1057517511
Max Magnitude0
ClinVar
Risk rs1057517511(GTTAT;GTTAT)
Alt rs1057517511(GTTAT;GTTAT)
Reference Rs1057517511(-;-)
Significance Probable-Pathogenic
Disease Diastrophic dysplasia Achondrogenesis Multiple epiphyseal dysplasia 4 Atelosteogenesis type 2
Variation info
Gene SLC26A2
CLNDBN Diastrophic dysplasia Achondrogenesis, type IB Multiple epiphyseal dysplasia 4 Atelosteogenesis type 2
Reversed 0
HGVS NC_000005.9:g.149360693_149360697dupGTTAT
CLNSRC
CLNACC RCV000409678.1, RCV000409864.1, RCV000410828.1, RCV000412349.1,