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rs1057517474

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(TGAC;TGAC) 0 common in clinvar
Make rs1057517474(-;-)
Make rs1057517474(-;ACTG)
Make rs1057517474(ACTG;ACTG)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position149981548
GeneSLC26A2
is asnp
is mentioned by
dbSNPrs1057517474
dbSNP (old)rs1057517474
ClinGenrs1057517474
ebirs1057517474
HLIrs1057517474
Exacrs1057517474
Gnomadrs1057517474
Varsomers1057517474
Maprs1057517474
PheGenIrs1057517474
Biobankrs1057517474
1000 genomesrs1057517474
hgdprs1057517474
ensemblrs1057517474
gopubmedrs1057517474
geneviewrs1057517474
scholarrs1057517474
googlers1057517474
pharmgkbrs1057517474
gwascentralrs1057517474
openSNPrs1057517474
23andMers1057517474
23andMe allrs1057517474
SNPshotrs1057517474
SNPdbers1057517474
MSV3drs1057517474
GWAS Ctlgrs1057517474
Max Magnitude0
ClinVar
Risk rs1057517474(-;-)
Alt rs1057517474(-;-)
Reference Rs1057517474(TGAC;TGAC)
Significance Probable-Pathogenic
Disease Multiple epiphyseal dysplasia 4 Atelosteogenesis type 2 Diastrophic dysplasia Achondrogenesis
Variation info
Gene SLC26A2
CLNDBN Multiple epiphyseal dysplasia 4 Atelosteogenesis type 2 Diastrophic dysplasia Achondrogenesis, type IB
Reversed 0
HGVS NC_000005.9:g.149361111_149361114delACTG
CLNSRC
CLNACC RCV000409824.1, RCV000410934.1, RCV000411814.1, RCV000412444.1,