rs1028534806

Orientation

plus

Stabilized

plus

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

Reference

GRCh38.p7 38.3/150

Chromosome

22

Position

17592721

Gene

ATP6V1E1

is a	snp
is	mentioned by
dbSNP	rs1028534806
dbSNP (classic)	rs1028534806
ClinGen	rs1028534806
ebi	rs1028534806
HLI	rs1028534806
Exac	rs1028534806
Gnomad	rs1028534806
Varsome	rs1028534806
LitVar	rs1028534806
Map	rs1028534806
PheGenI	rs1028534806
Biobank	rs1028534806
1000 genomes	rs1028534806
hgdp	rs1028534806
ensembl	rs1028534806
geneview	rs1028534806
scholar	rs1028534806
google	rs1028534806
pharmgkb	rs1028534806
gwascentral	rs1028534806
openSNP	rs1028534806
23andMe	rs1028534806
SNPshot	rs1028534806
SNPdbe	rs1028534806
MSV3d	rs1028534806
GWAS Ctlg	rs1028534806

Max Magnitude

0

ClinVar
Risk	rs1028534806(A;A)
Alt	rs1028534806(A;A)
Reference	Rs1028534806(G;G)
Significance	Pathogenic
Disease	CUTIS LAXA
Variation	info
Gene
CLNDBN	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC
Reversed	0
HGVS	NC_000022.10:g.18075487G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000477738.1,