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rs104893916

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104893916(G;T)
Make rs104893916(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position149981626
GeneSLC26A2
is asnp
is mentioned by
dbSNPrs104893916
dbSNP (classic)rs104893916
ClinGenrs104893916
ebirs104893916
HLIrs104893916
Exacrs104893916
Gnomadrs104893916
Varsomers104893916
LitVarrs104893916
Maprs104893916
PheGenIrs104893916
Biobankrs104893916
1000 genomesrs104893916
hgdprs104893916
ensemblrs104893916
geneviewrs104893916
scholarrs104893916
googlers104893916
pharmgkbrs104893916
gwascentralrs104893916
openSNPrs104893916
23andMers104893916
SNPshotrs104893916
SNPdbers104893916
MSV3drs104893916
GWAS Ctlgrs104893916
Max Magnitude0
OMIM606718
Desc
Variant0007
Relatedalso
ClinVar
Risk rs104893916(T;T)
Alt rs104893916(T;T)
Reference Rs104893916(G;G)
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.149361189G>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000023570.3, RCV000055761.1, RCV000169017.1,