rs120074161

Orientation

minus

Stabilized

minus

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

Make rs120074161(C;G)

Make rs120074161(G;G)

Reference

GRCh38 38.1/141

Chromosome

18

Position

49430347

Gene

DYM

is a	snp
is	mentioned by
dbSNP	rs120074161
dbSNP (classic)	rs120074161
ClinGen	rs120074161
ebi	rs120074161
HLI	rs120074161
Exac	rs120074161
Gnomad	rs120074161
Varsome	rs120074161
LitVar	rs120074161
Map	rs120074161
PheGenI	rs120074161
Biobank	rs120074161
1000 genomes	rs120074161
hgdp	rs120074161
ensembl	rs120074161
geneview	rs120074161
scholar	rs120074161
google	rs120074161
pharmgkb	rs120074161
gwascentral	rs120074161
openSNP	rs120074161
23andMe	rs120074161
SNPshot	rs120074161
SNPdbe	rs120074161
MSV3d	rs120074161
GWAS Ctlg	rs120074161

Max Magnitude

0

OMIM	607461
Desc
Variant	0001
Related	also

ClinVar
Risk	rs120074161(G;G) rs120074161(T;T)
Alt	rs120074161(G;G) rs120074161(T;T)
Reference	Rs120074161(C;C)
Significance	Pathogenic
Disease	Dyggve-Melchior-Clausen syndrome
Variation	info
Gene	DYM
CLNDBN	Dyggve-Melchior-Clausen syndrome
Reversed	1
HGVS	NC_000018.9:g.46956717G>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000003334.3,