rs104894647

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	0	common in clinvar

Make rs104894647(A;G)

Make rs104894647(G;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

72122804

Gene

SOX9

is a	snp
is	mentioned by
dbSNP	rs104894647
dbSNP (classic)	rs104894647
ClinGen	rs104894647
ebi	rs104894647
HLI	rs104894647
Exac	rs104894647
Gnomad	rs104894647
Varsome	rs104894647
LitVar	rs104894647
Map	rs104894647
PheGenI	rs104894647
Biobank	rs104894647
1000 genomes	rs104894647
hgdp	rs104894647
ensembl	rs104894647
geneview	rs104894647
scholar	rs104894647
google	rs104894647
pharmgkb	rs104894647
gwascentral	rs104894647
openSNP	rs104894647
23andMe	rs104894647
SNPshot	rs104894647
SNPdbe	rs104894647
MSV3d	rs104894647
GWAS Ctlg	rs104894647

Max Magnitude

0

OMIM	608160
Desc
Variant	0006
Related	also

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 UniProtKB (protein)
CLNACC	RCV000002618.3,