rs387907327

Orientation

minus

Stabilized

minus

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

Make rs387907327(G;T)

Make rs387907327(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

142497116

Gene

ATR

is a	snp
is	mentioned by
dbSNP	rs387907327
dbSNP (classic)	rs387907327
ClinGen	rs387907327
ebi	rs387907327
HLI	rs387907327
Exac	rs387907327
Gnomad	rs387907327
Varsome	rs387907327
LitVar	rs387907327
Map	rs387907327
PheGenI	rs387907327
Biobank	rs387907327
1000 genomes	rs387907327
hgdp	rs387907327
ensembl	rs387907327
geneview	rs387907327
scholar	rs387907327
google	rs387907327
pharmgkb	rs387907327
gwascentral	rs387907327
openSNP	rs387907327
23andMe	rs387907327
SNPshot	rs387907327
SNPdbe	rs387907327
MSV3d	rs387907327
GWAS Ctlg	rs387907327

Max Magnitude

0

ClinVar
Risk	rs387907327(T;T)
Alt	rs387907327(T;T)
Reference	Rs387907327(G;G)
Significance	Pathogenic
Disease	Seckel syndrome 1
Variation	info
Gene	ATR
CLNDBN	Seckel syndrome 1
Reversed	1
HGVS	NC_000003.11:g.142215958C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000034827.3,