rs1057518846

Orientation

minus

Stabilized

minus

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

Make rs1057518846(G;T)

Make rs1057518846(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

15

Position

67235978

Gene

AAGAB

is a	snp
is	mentioned by
dbSNP	rs1057518846
dbSNP (classic)	rs1057518846
ClinGen	rs1057518846
ebi	rs1057518846
HLI	rs1057518846
Exac	rs1057518846
Gnomad	rs1057518846
Varsome	rs1057518846
LitVar	rs1057518846
Map	rs1057518846
PheGenI	rs1057518846
Biobank	rs1057518846
1000 genomes	rs1057518846
hgdp	rs1057518846
ensembl	rs1057518846
geneview	rs1057518846
scholar	rs1057518846
google	rs1057518846
pharmgkb	rs1057518846
gwascentral	rs1057518846
openSNP	rs1057518846
23andMe	rs1057518846
SNPshot	rs1057518846
SNPdbe	rs1057518846
MSV3d	rs1057518846
GWAS Ctlg	rs1057518846

Max Magnitude

0

ClinVar
Risk	rs1057518846(T;T)
Alt	rs1057518846(T;T)
Reference	Rs1057518846(G;G)
Significance	Probable-Pathogenic
Disease	Palmoplantar keratoderma
Variation	info
Gene	AAGAB
CLNDBN	Palmoplantar keratoderma
Reversed	1
HGVS	NC_000015.9:g.67528316C>A
CLNSRC
CLNACC	RCV000415378.1,