rs1060505037

Orientation

plus

Stabilized

plus

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

Make rs1060505037(A;A)

Make rs1060505037(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

3

Position

113784227

Gene

ATP6V1A

is a	snp
is	mentioned by
dbSNP	rs1060505037
dbSNP (classic)	rs1060505037
ClinGen	rs1060505037
ebi	rs1060505037
HLI	rs1060505037
Exac	rs1060505037
Gnomad	rs1060505037
Varsome	rs1060505037
LitVar	rs1060505037
Map	rs1060505037
PheGenI	rs1060505037
Biobank	rs1060505037
1000 genomes	rs1060505037
hgdp	rs1060505037
ensembl	rs1060505037
geneview	rs1060505037
scholar	rs1060505037
google	rs1060505037
pharmgkb	rs1060505037
gwascentral	rs1060505037
openSNP	rs1060505037
23andMe	rs1060505037
SNPshot	rs1060505037
SNPdbe	rs1060505037
MSV3d	rs1060505037
GWAS Ctlg	rs1060505037

Max Magnitude

0

ClinVar
Risk	rs1060505037(A;A)
Alt	rs1060505037(A;A)
Reference	Rs1060505037(G;G)
Significance	Pathogenic
Disease	CUTIS LAXA
Variation	info
Gene	ATP6V1A
CLNDBN	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID
Reversed	0
HGVS	NC_000003.11:g.113503074G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000477689.1,