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rs1057517523

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057517523(C;G)
Make rs1057517523(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position149977837
GeneSLC26A2
is asnp
is mentioned by
dbSNPrs1057517523
dbSNP (old)rs1057517523
ClinGenrs1057517523
ebirs1057517523
HLIrs1057517523
Exacrs1057517523
Gnomadrs1057517523
Varsomers1057517523
Maprs1057517523
PheGenIrs1057517523
Biobankrs1057517523
1000 genomesrs1057517523
hgdprs1057517523
ensemblrs1057517523
gopubmedrs1057517523
geneviewrs1057517523
scholarrs1057517523
googlers1057517523
pharmgkbrs1057517523
gwascentralrs1057517523
openSNPrs1057517523
23andMers1057517523
23andMe allrs1057517523
SNPshotrs1057517523
SNPdbers1057517523
MSV3drs1057517523
GWAS Ctlgrs1057517523
Max Magnitude0
ClinVar
Risk rs1057517523(G;G)
Alt rs1057517523(G;G)
Reference Rs1057517523(C;C)
Significance Probable-Pathogenic
Disease Atelosteogenesis type 2 Diastrophic dysplasia Achondrogenesis Multiple epiphyseal dysplasia 4
Variation info
Gene SLC26A2
CLNDBN Atelosteogenesis type 2 Diastrophic dysplasia Achondrogenesis, type IB Multiple epiphyseal dysplasia 4
Reversed 0
HGVS NC_000005.9:g.149357400C>G
CLNSRC
CLNACC RCV000409043.1, RCV000409914.1, RCV000410073.1, RCV000411463.1,