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rs30832

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(G;G) 0 common in complete genomics
Make rs30832(A;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position149981314
GeneSLC26A2
is asnp
is mentioned by
dbSNPrs30832
ebirs30832
HLIrs30832
Exacrs30832
Varsomers30832
Maprs30832
PheGenIrs30832
hapmaprs30832
1000 genomesrs30832
hgdprs30832
ensemblrs30832
gopubmedrs30832
geneviewrs30832
scholarrs30832
googlers30832
pharmgkbrs30832
gwascentralrs30832
openSNPrs30832
23andMers30832
23andMe allrs30832
SNP Nexus

SNPshotrs30832
SNPdbers30832
MSV3drs30832
GWAS Ctlgrs30832
GMAF0.002755
Max Magnitude0
? (A;A) (A;G) (G;G) 28
Venter snp
Source plos
Gene SLC26A2
allele C
frequency 0.991
sift TOLERATED
HuRef 1103654255829
Disease Association Defects in SLC26A2 are the cause of multiple epiphyseal dysplasia 4 (EDM4) (MIM:226900). EDM is a generalized skeletal dysplasia associated with significant morbidity. Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. EDM is broadly categorized into the more severe Fairbank and the milder Ribbing types. EDM4 is a recessively inherited form, characterized by early childhood-onset hip dysplasia and recurrent patella dislocation. Short stature in EDM4 patients is not frequent.



GET Evidence
SLC26A2-I574T
aa_change Ile574Thr
aa_change_short I574T
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.993027
summary



ClinVar
Risk rs30832(G;G)
Alt rs30832(G;G)
Reference rs30832(A;A)
Significance Non-pathogenic
Disease not specified
Variation info
Gene SLC26A2
CLNDBN not specified
Reversed 1
HGVS NC_000005.9:g.149360877T>C
CLNSRC
CLNACC RCV000176982.1,