rs28936696

Orientation

plus

Stabilized

plus

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

Make rs28936696(A;G)

Make rs28936696(G;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

61483470

Gene

TBX4

is a	snp
is	mentioned by
dbSNP	rs28936696
dbSNP (classic)	rs28936696
ClinGen	rs28936696
ebi	rs28936696
HLI	rs28936696
Exac	rs28936696
Gnomad	rs28936696
Varsome	rs28936696
LitVar	rs28936696
Map	rs28936696
PheGenI	rs28936696
Biobank	rs28936696
1000 genomes	rs28936696
hgdp	rs28936696
ensembl	rs28936696
geneview	rs28936696
scholar	rs28936696
google	rs28936696
pharmgkb	rs28936696
gwascentral	rs28936696
openSNP	rs28936696
23andMe	rs28936696
SNPshot	rs28936696
SNPdbe	rs28936696
MSV3d	rs28936696
GWAS Ctlg	rs28936696

Max Magnitude

0

OMIM	601719
Desc	SMALL PATELLA SYNDROME
Variant	0003
Related	also

ClinVar
Risk	rs28936696(G;G)
Alt	rs28936696(G;G)
Reference	Rs28936696(A;A)
Significance	Pathogenic
Disease	Ischiopatellar dysplasia
Variation	info
Gene	TBX4
CLNDBN	Ischiopatellar dysplasia
Reversed	0
HGVS	NC_000017.10:g.59560831A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008307.4,