rs199422117

Orientation

plus

Stabilized

plus

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

Make rs199422117(A;A)

Make rs199422117(A;G)

Reference

GRCh38 38.1/141

Chromosome

7

Position

140015731

Gene

TBXAS1

is a	snp
is	mentioned by
dbSNP	rs199422117
dbSNP (classic)	rs199422117
ClinGen	rs199422117
ebi	rs199422117
HLI	rs199422117
Exac	rs199422117
Gnomad	rs199422117
Varsome	rs199422117
LitVar	rs199422117
Map	rs199422117
PheGenI	rs199422117
Biobank	rs199422117
1000 genomes	rs199422117
hgdp	rs199422117
ensembl	rs199422117
geneview	rs199422117
scholar	rs199422117
google	rs199422117
pharmgkb	rs199422117
gwascentral	rs199422117
openSNP	rs199422117
23andMe	rs199422117
SNPshot	rs199422117
SNPdbe	rs199422117
MSV3d	rs199422117
GWAS Ctlg	rs199422117

Max Magnitude

0

ClinVar
Risk	rs199422117(A;A)
Alt	rs199422117(A;A)
Reference	Rs199422117(G;G)
Significance	Pathogenic
Disease	Ghosal hematodiaphyseal syndrome
Variation	info
Gene	TBXAS1
CLNDBN	Ghosal hematodiaphyseal syndrome
Reversed	0
HGVS	NC_000007.13:g.139715531G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000012664.24,