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rs398122390

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs398122390(A;T)
Make rs398122390(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position48824894
GeneERAS, HDAC6
is asnp
is mentioned by
dbSNPrs398122390
ebirs398122390
HLIrs398122390
Exacrs398122390
Varsomers398122390
Maprs398122390
PheGenIrs398122390
hapmaprs398122390
1000 genomesrs398122390
hgdprs398122390
ensemblrs398122390
gopubmedrs398122390
geneviewrs398122390
scholarrs398122390
googlers398122390
pharmgkbrs398122390
gwascentralrs398122390
openSNPrs398122390
23andMers398122390
23andMe allrs398122390
SNP Nexus

SNPshotrs398122390
SNPdbers398122390
MSV3drs398122390
GWAS Ctlgrs398122390
Max Magnitude0
ClinVar
Risk rs398122390(T;T)
Alt rs398122390(T;T)
Reference rs398122390(A;A)
Significance Pathogenic
Disease Chondrodysplasia with platyspondyly
Variation info
Gene ERAS HDAC6
CLNDBN Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia
Reversed 0
HGVS NC_000023.10:g.48683304A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000055614.13,