rs797045327

Orientation

plus

Stabilized

plus

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

Make rs797045327(-;GGGGC)

Make rs797045327(GGGGC;GGGGC)

Reference

GRCh38.p2 38.2/147

Chromosome

X

Position

77989646

Gene

ATP7A

is a	snp
is	mentioned by
dbSNP	rs797045327
dbSNP (classic)	rs797045327
ClinGen	rs797045327
ebi	rs797045327
HLI	rs797045327
Exac	rs797045327
Gnomad	rs797045327
Varsome	rs797045327
LitVar	rs797045327
Map	rs797045327
PheGenI	rs797045327
Biobank	rs797045327
1000 genomes	rs797045327
hgdp	rs797045327
ensembl	rs797045327
geneview	rs797045327
scholar	rs797045327
google	rs797045327
pharmgkb	rs797045327
gwascentral	rs797045327
openSNP	rs797045327
23andMe	rs797045327
SNPshot	rs797045327
SNPdbe	rs797045327
MSV3d	rs797045327
GWAS Ctlg	rs797045327

Max Magnitude

0

ClinVar
Risk	rs797045327(CGGGG;CGGGG)
Alt	rs797045327(CGGGG;CGGGG)
Reference	Rs797045327(-;-)
Significance	Pathogenic
Disease	Menkes kinky-hair syndrome
Variation	info
Gene	ATP7A
CLNDBN	Menkes kinky-hair syndrome
Reversed	0
HGVS	NC_000023.10:g.77245138_77245142dupGGGGC
CLNSRC
CLNACC	RCV000193458.1,