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rs1057517504

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057517504(-;GCAGT)
Make rs1057517504(GCAGT;GCAGT)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position149977895
GeneSLC26A2
is asnp
is mentioned by
dbSNPrs1057517504
dbSNP (old)rs1057517504
ClinGenrs1057517504
ebirs1057517504
HLIrs1057517504
Exacrs1057517504
Gnomadrs1057517504
Varsomers1057517504
Maprs1057517504
PheGenIrs1057517504
Biobankrs1057517504
1000 genomesrs1057517504
hgdprs1057517504
ensemblrs1057517504
gopubmedrs1057517504
geneviewrs1057517504
scholarrs1057517504
googlers1057517504
pharmgkbrs1057517504
gwascentralrs1057517504
openSNPrs1057517504
23andMers1057517504
23andMe allrs1057517504
SNPshotrs1057517504
SNPdbers1057517504
MSV3drs1057517504
GWAS Ctlgrs1057517504
Max Magnitude0
ClinVar
Risk rs1057517504(CAGTG;CAGTG)
Alt rs1057517504(CAGTG;CAGTG)
Reference Rs1057517504(-;-)
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.149357454_149357458dupGCAGT
CLNSRC
CLNACC RCV000409029.1, RCV000409666.1, RCV000410521.1, RCV000411597.1,