rs797045331

Orientation

plus

Stabilized

plus

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

Make rs797045331(A;A)

Make rs797045331(A;G)

Reference

GRCh38.p2 38.2/147

Chromosome

X

Position

78003072

Gene

ATP7A

is a	snp
is	mentioned by
dbSNP	rs797045331
dbSNP (classic)	rs797045331
ClinGen	rs797045331
ebi	rs797045331
HLI	rs797045331
Exac	rs797045331
Gnomad	rs797045331
Varsome	rs797045331
LitVar	rs797045331
Map	rs797045331
PheGenI	rs797045331
Biobank	rs797045331
1000 genomes	rs797045331
hgdp	rs797045331
ensembl	rs797045331
geneview	rs797045331
scholar	rs797045331
google	rs797045331
pharmgkb	rs797045331
gwascentral	rs797045331
openSNP	rs797045331
23andMe	rs797045331
SNPshot	rs797045331
SNPdbe	rs797045331
MSV3d	rs797045331
GWAS Ctlg	rs797045331

Max Magnitude

0

ClinVar
Risk	rs797045331(A;A)
Alt	rs797045331(A;A)
Reference	Rs797045331(G;G)
Significance	Pathogenic
Disease	Menkes kinky-hair syndrome
Variation	info
Gene	ATP7A
CLNDBN	Menkes kinky-hair syndrome
Reversed	0
HGVS	NC_000023.10:g.77258569G>A
CLNSRC
CLNACC	RCV000193686.1,