Have questions? Visit https://www.reddit.com/r/SNPedia

rs137853128

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137853128(A;A)
Make rs137853128(A;C)
ReferenceGRCh38 38.1/141
Chromosome17
Position72121618
GeneSOX9
is asnp
is mentioned by
dbSNPrs137853128
ebirs137853128
HLIrs137853128
Exacrs137853128
Varsomers137853128
Maprs137853128
PheGenIrs137853128
hapmaprs137853128
1000 genomesrs137853128
hgdprs137853128
ensemblrs137853128
gopubmedrs137853128
geneviewrs137853128
scholarrs137853128
googlers137853128
pharmgkbrs137853128
gwascentralrs137853128
openSNPrs137853128
23andMers137853128
23andMe allrs137853128
SNP Nexus

SNPshotrs137853128
SNPdbers137853128
MSV3drs137853128
GWAS Ctlgrs137853128
Max Magnitude0
OMIM608160
Desc
Variant0009
Relatedalso
ClinVar
Risk rs137853128(A;A)
Alt rs137853128(A;A)
Reference rs137853128(C;C)
Significance Pathogenic
Disease Acampomelic campomelic dysplasia
Variation info
Gene SOX9 SOX9-AS1 FLJ37644
CLNDBN Acampomelic campomelic dysplasia
Reversed 0
HGVS NC_000017.10:g.70117759C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002621.3,