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rs121908077

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GTT;GTT) 0 common in clinvar
(TTG;TTG) 0 common in clinvar
Make rs121908077(-;-)
Make rs121908077(-;GTT)
ReferenceGRCh38 38.1/141
Chromosome5
Position149980611
GeneSLC26A2
is asnp
is mentioned by
dbSNPrs121908077
ebirs121908077
HLIrs121908077
Exacrs121908077
Varsomers121908077
Maprs121908077
PheGenIrs121908077
hapmaprs121908077
1000 genomesrs121908077
hgdprs121908077
ensemblrs121908077
gopubmedrs121908077
geneviewrs121908077
scholarrs121908077
googlers121908077
pharmgkbrs121908077
gwascentralrs121908077
openSNPrs121908077
23andMers121908077
23andMe allrs121908077
SNP Nexus

SNPshotrs121908077
SNPdbers121908077
MSV3drs121908077
GWAS Ctlgrs121908077
Max Magnitude0
OMIM606718
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121908077(;)
Alt rs121908077(;)
Reference rs121908077(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,