rs1060499759

Orientation

minus

Stabilized

minus

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

Make rs1060499759(A;A)

Make rs1060499759(A;T)

Reference

GRCh38.p7 38.3/150

Chromosome

X

Position

77688879

Gene

ATRX

is a	snp
is	mentioned by
dbSNP	rs1060499759
dbSNP (classic)	rs1060499759
ClinGen	rs1060499759
ebi	rs1060499759
HLI	rs1060499759
Exac	rs1060499759
Gnomad	rs1060499759
Varsome	rs1060499759
LitVar	rs1060499759
Map	rs1060499759
PheGenI	rs1060499759
Biobank	rs1060499759
1000 genomes	rs1060499759
hgdp	rs1060499759
ensembl	rs1060499759
geneview	rs1060499759
scholar	rs1060499759
google	rs1060499759
pharmgkb	rs1060499759
gwascentral	rs1060499759
openSNP	rs1060499759
23andMe	rs1060499759
SNPshot	rs1060499759
SNPdbe	rs1060499759
MSV3d	rs1060499759
GWAS Ctlg	rs1060499759

Max Magnitude

0

ClinVar
Risk	rs1060499759(A;A)
Alt	rs1060499759(A;A)
Reference	Rs1060499759(T;T)
Significance	Probable-Pathogenic
Disease	Global developmental delay Microcephaly
Variation	info
Gene	ATRX
CLNDBN	Global developmental delay Microcephaly
Reversed	1
HGVS	NC_000023.10:g.76944372A>T
CLNSRC
CLNACC	RCV000454334.1,