rs41272699

Orientation

plus

Stabilized

plus

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

Make rs41272699(C;T)

Make rs41272699(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

2

Position

219420154

Gene

DES

is a	snp
is	mentioned by
dbSNP	rs41272699
dbSNP (classic)	rs41272699
ClinGen	rs41272699
ebi	rs41272699
HLI	rs41272699
Exac	rs41272699
Gnomad	rs41272699
Varsome	rs41272699
LitVar	rs41272699
Map	rs41272699
PheGenI	rs41272699
Biobank	rs41272699
1000 genomes	rs41272699
hgdp	rs41272699
ensembl	rs41272699
geneview	rs41272699
scholar	rs41272699
google	rs41272699
pharmgkb	rs41272699
gwascentral	rs41272699
openSNP	rs41272699
23andMe	rs41272699
SNPshot	rs41272699
SNPdbe	rs41272699
MSV3d	rs41272699
GWAS Ctlg	rs41272699

Max Magnitude

0

ClinVar
Risk	rs41272699(T;T)
Alt	rs41272699(T;T)
Reference	Rs41272699(C;C)
Significance	Pathogenic
Disease	not specified not provided Congenital diaphragmatic hernia Muscular dystrophy Myofibrillar myopathy 1 Myofibrillar myopathy Cardiovascular phenotype Myofibrillar Myopathy Dilated Cardiomyopathy Scapuloperoneal weakness
Variation	info
Gene	DES
CLNDBN	not specified not provided Congenital diaphragmatic hernia Muscular dystrophy, limb-girdle, type 2r Myofibrillar myopathy 1 Myofibrillar myopathy Cardiovascular phenotype Myofibrillar Myopathy, Dominant Dilated Cardiomyopathy, Dominant Scapuloperoneal weakness
Reversed	0
HGVS	NC_000002.11:g.220284876C>T
CLNSRC	HGMD UniProtKB (protein)
CLNACC	RCV000037245.8, RCV000056805.1, RCV000203295.1, RCV000233557.2, RCV000239721.1, RCV000250294.1, RCV000263666.1, RCV000313133.1, RCV000318781.1, RCV000367823.1,