rs1060505031

Orientation

minus

Stabilized

minus

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

Make rs1060505031(C;C)

Make rs1060505031(C;T)

Reference

GRCh38.p7 38.3/150

Chromosome

22

Position

17600079

Gene

ATP6V1E1

is a	snp
is	mentioned by
dbSNP	rs1060505031
dbSNP (classic)	rs1060505031
ClinGen	rs1060505031
ebi	rs1060505031
HLI	rs1060505031
Exac	rs1060505031
Gnomad	rs1060505031
Varsome	rs1060505031
LitVar	rs1060505031
Map	rs1060505031
PheGenI	rs1060505031
Biobank	rs1060505031
1000 genomes	rs1060505031
hgdp	rs1060505031
ensembl	rs1060505031
geneview	rs1060505031
scholar	rs1060505031
google	rs1060505031
pharmgkb	rs1060505031
gwascentral	rs1060505031
openSNP	rs1060505031
23andMe	rs1060505031
SNPshot	rs1060505031
SNPdbe	rs1060505031
MSV3d	rs1060505031
GWAS Ctlg	rs1060505031

Max Magnitude

0

ClinVar
Risk	rs1060505031(C;C)
Alt	rs1060505031(C;C)
Reference	Rs1060505031(T;T)
Significance	Pathogenic
Disease	CUTIS LAXA
Variation	info
Gene	ATP6V1E1
CLNDBN	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC
Reversed	1
HGVS	NC_000022.10:g.18082845A>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000477698.1,