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

rs1057517483

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057517483(C;T)
Make rs1057517483(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position149978193
GeneSLC26A2
is asnp
is mentioned by
dbSNPrs1057517483
dbSNP (classic)rs1057517483
ClinGenrs1057517483
ebirs1057517483
HLIrs1057517483
Exacrs1057517483
Gnomadrs1057517483
Varsomers1057517483
LitVarrs1057517483
Maprs1057517483
PheGenIrs1057517483
Biobankrs1057517483
1000 genomesrs1057517483
hgdprs1057517483
ensemblrs1057517483
geneviewrs1057517483
scholarrs1057517483
googlers1057517483
pharmgkbrs1057517483
gwascentralrs1057517483
openSNPrs1057517483
23andMers1057517483
23andMe allrs1057517483
SNPshotrs1057517483
SNPdbers1057517483
MSV3drs1057517483
GWAS Ctlgrs1057517483
Max Magnitude0
ClinVar
Risk rs1057517483(T;T)
Alt rs1057517483(T;T)
Reference Rs1057517483(C;C)
Significance Probable-Pathogenic
Disease Achondrogenesis Multiple epiphyseal dysplasia 4 Atelosteogenesis type 2 Diastrophic dysplasia
Variation info
Gene SLC26A2
CLNDBN Achondrogenesis, type IB Multiple epiphyseal dysplasia 4 Atelosteogenesis type 2 Diastrophic dysplasia
Reversed 0
HGVS NC_000005.9:g.149357756C>T
CLNSRC
CLNACC RCV000409182.1, RCV000410110.1, RCV000411159.1, RCV000412066.1,