Have questions? Visit https://www.reddit.com/r/SNPedia

rs1057517527

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TG;TG) 0 common in clinvar
Make rs1057517527(-;-)
Make rs1057517527(-;TG)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position149978137
GeneSLC26A2
is asnp
is mentioned by
dbSNPrs1057517527
dbSNP (old)rs1057517527
ClinGenrs1057517527
ebirs1057517527
HLIrs1057517527
Exacrs1057517527
Gnomadrs1057517527
Varsomers1057517527
LitVarrs1057517527
Maprs1057517527
PheGenIrs1057517527
Biobankrs1057517527
1000 genomesrs1057517527
hgdprs1057517527
ensemblrs1057517527
gopubmedrs1057517527
geneviewrs1057517527
scholarrs1057517527
googlers1057517527
pharmgkbrs1057517527
gwascentralrs1057517527
openSNPrs1057517527
23andMers1057517527
23andMe allrs1057517527
SNPshotrs1057517527
SNPdbers1057517527
MSV3drs1057517527
GWAS Ctlgrs1057517527
Max Magnitude0
ClinVar
Risk rs1057517527(-;-)
Alt rs1057517527(-;-)
Reference Rs1057517527(TG;TG)
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.149357700_149357701delTG
CLNSRC
CLNACC RCV000409216.1, RCV000410244.1, RCV000411191.1, RCV000411337.1,