rs143739249

Orientation

plus

Stabilized

plus

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

Make rs143739249(C;T)

Make rs143739249(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

73830968

Gene	LOC105374807, STAMBP

is a	snp
is	mentioned by
dbSNP	rs143739249
dbSNP (classic)	rs143739249
ClinGen	rs143739249
ebi	rs143739249
HLI	rs143739249
Exac	rs143739249
Gnomad	rs143739249
Varsome	rs143739249
LitVar	rs143739249
Map	rs143739249
PheGenI	rs143739249
Biobank	rs143739249
1000 genomes	rs143739249
hgdp	rs143739249
ensembl	rs143739249
geneview	rs143739249
scholar	rs143739249
google	rs143739249
pharmgkb	rs143739249
gwascentral	rs143739249
openSNP	rs143739249
23andMe	rs143739249
SNPshot	rs143739249
SNPdbe	rs143739249
MSV3d	rs143739249
GWAS Ctlg	rs143739249

Max Magnitude

0

ClinVar
Risk	rs143739249(T;T)
Alt	rs143739249(T;T)
Reference	Rs143739249(C;C)
Significance	Pathogenic
Disease	Microcephaly-capillary malformation syndrome not provided
Variation	info
Gene	STAMBP
CLNDBN	Microcephaly-capillary malformation syndrome not provided
Reversed	0
HGVS	NC_000002.11:g.74058095C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000043574.7, RCV000426675.1,