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rs104894647

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104894647(A;G)
Make rs104894647(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position72122804
GeneSOX9
is asnp
is mentioned by
dbSNPrs104894647
ebirs104894647
HLIrs104894647
Exacrs104894647
Varsomers104894647
Maprs104894647
PheGenIrs104894647
hapmaprs104894647
1000 genomesrs104894647
hgdprs104894647
ensemblrs104894647
gopubmedrs104894647
geneviewrs104894647
scholarrs104894647
googlers104894647
pharmgkbrs104894647
gwascentralrs104894647
openSNPrs104894647
23andMers104894647
23andMe allrs104894647
SNP Nexus

SNPshotrs104894647
SNPdbers104894647
MSV3drs104894647
GWAS Ctlgrs104894647
Max Magnitude0
OMIM608160
Desc
Variant0006
Relatedalso
ClinVar
Risk rs104894647(G;G)
Alt rs104894647(G;G)
Reference rs104894647(A;A)
Significance Pathogenic
Disease Acampomelic campomelic dysplasia
Variation info
Gene SOX9 FLJ37644
CLNDBN Acampomelic campomelic dysplasia
Reversed 0
HGVS NC_000017.10:g.70118945A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000002618.3,