Rs104893920

From SNPedia
Jump to: navigation, search

Orientationplus
is asnp
is mentioned by
dbSNPrs104893920
PheGenIrs104893920
nextbiors104893920
hapmaprs104893920
1000 genomesrs104893920
hgdprs104893920
ensemblrs104893920
gopubmedrs104893920
geneviewrs104893920
scholarrs104893920
googlers104893920
pharmgkbrs104893920
gwascentralrs104893920
openSNPrs104893920
23andMers104893920
23andMe allrs104893920
SNP Nexus

SNPshotrs104893920
SNPdbers104893920
MSV3drs104893920
GeneSLC26A2
Chromosome5
Orientationplus
Position149360429
ReferenceGRCh37 37.1/132
Max Magnitude0
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104893920(A;G)
Make rs104893920(G;G)
OMIM606718
Desc
Variant0006
Relatedalso
ClinVar
Risk rs104893920(G;G)
Alt rs104893920(G;G)
Reference rs104893920(A;A)
Significance 5
Disease Achondrogenesis, Diastrophic dysplasia
ClinVar info
Gene SLC26A2
CLNDBN Achondrogenesis, type IB, Diastrophic dysplasia
Reversed 0
CLNHGVS NC_000005.9:g.149360429A>G
CLNSRC GeneReviews, OMIM Allelic Variant
CLNACC RCV000023569.1, RCV000055757.1