rs61753219

Orientation

minus

Stabilized

minus

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

Make rs61753219(C;T)

Make rs61753219(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

6

Position

42978330

Gene

PEX6

is a	snp
is	mentioned by
dbSNP	rs61753219
dbSNP (classic)	rs61753219
ClinGen	rs61753219
ebi	rs61753219
HLI	rs61753219
Exac	rs61753219
Gnomad	rs61753219
Varsome	rs61753219
LitVar	rs61753219
Map	rs61753219
PheGenI	rs61753219
Biobank	rs61753219
1000 genomes	rs61753219
hgdp	rs61753219
ensembl	rs61753219
geneview	rs61753219
scholar	rs61753219
google	rs61753219
pharmgkb	rs61753219
gwascentral	rs61753219
openSNP	rs61753219
23andMe	rs61753219
SNPshot	rs61753219
SNPdbe	rs61753219
MSV3d	rs61753219
GWAS Ctlg	rs61753219

Max Magnitude

0

ClinVar
Risk	rs61753219(T;T)
Alt	rs61753219(T;T)
Reference	Rs61753219(C;C)
Significance	Pathogenic
Disease	Heimler syndrome 2
Variation	info
Gene	PEX6
CLNDBN	Heimler syndrome 2
Reversed	1
HGVS	NC_000006.11:g.42946068G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000201297.2,