rs199422114

Orientation

plus

Stabilized

plus

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

Make rs199422114(C;C)

Make rs199422114(C;T)

Reference

GRCh38 38.1/141

Chromosome

7

Position

140017766

Gene

TBXAS1

is a	snp
is	mentioned by
dbSNP	rs199422114
dbSNP (classic)	rs199422114
ClinGen	rs199422114
ebi	rs199422114
HLI	rs199422114
Exac	rs199422114
Gnomad	rs199422114
Varsome	rs199422114
LitVar	rs199422114
Map	rs199422114
PheGenI	rs199422114
Biobank	rs199422114
1000 genomes	rs199422114
hgdp	rs199422114
ensembl	rs199422114
geneview	rs199422114
scholar	rs199422114
google	rs199422114
pharmgkb	rs199422114
gwascentral	rs199422114
openSNP	rs199422114
23andMe	rs199422114
SNPshot	rs199422114
SNPdbe	rs199422114
MSV3d	rs199422114
GWAS Ctlg	rs199422114

Max Magnitude

0

ClinVar
Risk	rs199422114(C;C)
Alt	rs199422114(C;C)
Reference	Rs199422114(T;T)
Significance	Pathogenic
Disease	Ghosal hematodiaphyseal syndrome
Variation	info
Gene	TBXAS1
CLNDBN	Ghosal hematodiaphyseal syndrome
Reversed	0
HGVS	NC_000007.13:g.139717566T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000012661.24,