rs267607038

Orientation

plus

Stabilized

plus

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

Make rs267607038(C;C)

Make rs267607038(C;T)

Reference

GRCh38 38.1/141

Chromosome

18

Position

44951952

Gene

SETBP1

is a	snp
is	mentioned by
dbSNP	rs267607038
dbSNP (classic)	rs267607038
ClinGen	rs267607038
ebi	rs267607038
HLI	rs267607038
Exac	rs267607038
Gnomad	rs267607038
Varsome	rs267607038
LitVar	rs267607038
Map	rs267607038
PheGenI	rs267607038
Biobank	rs267607038
1000 genomes	rs267607038
hgdp	rs267607038
ensembl	rs267607038
geneview	rs267607038
scholar	rs267607038
google	rs267607038
pharmgkb	rs267607038
gwascentral	rs267607038
openSNP	rs267607038
23andMe	rs267607038
SNPshot	rs267607038
SNPdbe	rs267607038
MSV3d	rs267607038
GWAS Ctlg	rs267607038

Max Magnitude

0

ClinVar
Risk	rs267607038(C;C)
Alt	rs267607038(C;C)
Reference	Rs267607038(T;T)
Significance	Pathogenic
Disease	Schinzel-Giedion syndrome not provided
Variation	info
Gene	SETBP1
CLNDBN	Schinzel-Giedion syndrome not provided
Reversed	0
HGVS	NC_000018.9:g.42531917T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001086.3, RCV000255245.2,