rs104894648

Orientation

plus

Stabilized

plus

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

Make rs104894648(C;T)

Make rs104894648(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

61456674

Gene

TBX4

is a	snp
is	mentioned by
dbSNP	rs104894648
dbSNP (classic)	rs104894648
ClinGen	rs104894648
ebi	rs104894648
HLI	rs104894648
Exac	rs104894648
Gnomad	rs104894648
Varsome	rs104894648
LitVar	rs104894648
Map	rs104894648
PheGenI	rs104894648
Biobank	rs104894648
1000 genomes	rs104894648
hgdp	rs104894648
ensembl	rs104894648
geneview	rs104894648
scholar	rs104894648
google	rs104894648
pharmgkb	rs104894648
gwascentral	rs104894648
openSNP	rs104894648
23andMe	rs104894648
SNPshot	rs104894648
SNPdbe	rs104894648
MSV3d	rs104894648
GWAS Ctlg	rs104894648

Max Magnitude

0

OMIM	601719
Desc
Variant	0002
Related	also

ClinVar
Risk	rs104894648(T;T)
Alt	rs104894648(T;T)
Reference	Rs104894648(C;C)
Significance	Pathogenic
Disease	Ischiopatellar dysplasia
Variation	info
Gene	TBX4
CLNDBN	Ischiopatellar dysplasia
Reversed	0
HGVS	NC_000017.10:g.59534035C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000008306.4,