rs28938474

Orientation

plus

Stabilized

plus

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

Make rs28938474(G;T)

Make rs28938474(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

61479921

Gene

TBX4

is a	snp
is	mentioned by
dbSNP	rs28938474
dbSNP (classic)	rs28938474
ClinGen	rs28938474
ebi	rs28938474
HLI	rs28938474
Exac	rs28938474
Gnomad	rs28938474
Varsome	rs28938474
LitVar	rs28938474
Map	rs28938474
PheGenI	rs28938474
Biobank	rs28938474
1000 genomes	rs28938474
hgdp	rs28938474
ensembl	rs28938474
geneview	rs28938474
scholar	rs28938474
google	rs28938474
pharmgkb	rs28938474
gwascentral	rs28938474
openSNP	rs28938474
23andMe	rs28938474
SNPshot	rs28938474
SNPdbe	rs28938474
MSV3d	rs28938474
GWAS Ctlg	rs28938474

Max Magnitude

0

OMIM	601719
Desc	SMALL PATELLA SYNDROME
Variant	0001
Related	also

ClinVar
Risk	rs28938474(T;T)
Alt	rs28938474(T;T)
Reference	Rs28938474(G;G)
Significance	Pathogenic
Disease	Ischiopatellar dysplasia
Variation	info
Gene	TBX4
CLNDBN	Ischiopatellar dysplasia
Reversed	0
HGVS	NC_000017.10:g.59557282G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008305.4,