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rs606231232

From SNPedia

Orientationplus
Geno Mag Summary
(TTG;TTG) 0 common in clinvar
Make rs606231232(-;-)
Make rs606231232(-;TGT)
Make rs606231232(TGT;TGT)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position149980613
GeneSLC26A2
is asnp
is mentioned by
dbSNPrs606231232
ebirs606231232
HLIrs606231232
Exacrs606231232
Varsomers606231232
Maprs606231232
PheGenIrs606231232
hapmaprs606231232
1000 genomesrs606231232
hgdprs606231232
ensemblrs606231232
gopubmedrs606231232
geneviewrs606231232
scholarrs606231232
googlers606231232
pharmgkbrs606231232
gwascentralrs606231232
openSNPrs606231232
23andMers606231232
23andMe allrs606231232
SNP Nexus

SNPshotrs606231232
SNPdbers606231232
MSV3drs606231232
GWAS Ctlgrs606231232
Max Magnitude0
ClinVar
Risk rs606231232(;)
Alt rs606231232(;)
Reference rs606231232(TTG;TTG)
Significance Pathogenic
Disease Achondrogenesis Diastrophic dysplasia Multiple epiphyseal dysplasia 4
Variation info
Gene SLC26A2
CLNDBN Achondrogenesis, type IB Diastrophic dysplasia Multiple epiphyseal dysplasia 4
Reversed 0
HGVS NC_000005.9:g.149360176_149360178delTGT
CLNSRC OMIM Allelic Variant
CLNACC RCV000023571.4, RCV000055756.1, RCV000169159.1,