rs199422116

Orientation

plus

Stabilized

plus

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

Make rs199422116(A;A)

Make rs199422116(A;G)

Reference

GRCh38 38.1/141

Chromosome

7

Position

140017747

Gene

TBXAS1

is a	snp
is	mentioned by
dbSNP	rs199422116
dbSNP (classic)	rs199422116
ClinGen	rs199422116
ebi	rs199422116
HLI	rs199422116
Exac	rs199422116
Gnomad	rs199422116
Varsome	rs199422116
LitVar	rs199422116
Map	rs199422116
PheGenI	rs199422116
Biobank	rs199422116
1000 genomes	rs199422116
hgdp	rs199422116
ensembl	rs199422116
geneview	rs199422116
scholar	rs199422116
google	rs199422116
pharmgkb	rs199422116
gwascentral	rs199422116
openSNP	rs199422116
23andMe	rs199422116
SNPshot	rs199422116
SNPdbe	rs199422116
MSV3d	rs199422116
GWAS Ctlg	rs199422116

Max Magnitude

0

ClinVar
Risk	rs199422116(A;A) rs199422116(T;T)
Alt	rs199422116(A;A) rs199422116(T;T)
Reference	Rs199422116(G;G)
Significance	Pathogenic
Disease	Ghosal hematodiaphyseal syndrome
Variation	info
Gene	TBXAS1
CLNDBN	Ghosal hematodiaphyseal syndrome
Reversed	0
HGVS	NC_000007.13:g.139717547G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000012663.22,