rs1060505036

Orientation

plus

Stabilized

plus

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

Make rs1060505036(C;T)

Make rs1060505036(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

3

Position

113794895

Gene

ATP6V1A

is a	snp
is	mentioned by
dbSNP	rs1060505036
dbSNP (classic)	rs1060505036
ClinGen	rs1060505036
ebi	rs1060505036
HLI	rs1060505036
Exac	rs1060505036
Gnomad	rs1060505036
Varsome	rs1060505036
LitVar	rs1060505036
Map	rs1060505036
PheGenI	rs1060505036
Biobank	rs1060505036
1000 genomes	rs1060505036
hgdp	rs1060505036
ensembl	rs1060505036
geneview	rs1060505036
scholar	rs1060505036
google	rs1060505036
pharmgkb	rs1060505036
gwascentral	rs1060505036
openSNP	rs1060505036
23andMe	rs1060505036
SNPshot	rs1060505036
SNPdbe	rs1060505036
MSV3d	rs1060505036
GWAS Ctlg	rs1060505036

Max Magnitude

0

ClinVar
Risk	rs1060505036(T;T)
Alt	rs1060505036(T;T)
Reference	Rs1060505036(C;C)
Significance	Pathogenic
Disease	CUTIS LAXA
Variation	info
Gene	ATP6V1A
CLNDBN	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID
Reversed	0
HGVS	NC_000003.11:g.113513742C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000477739.1,