rs120074162

Orientation

minus

Stabilized

minus

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

Make rs120074162(A;A)

Make rs120074162(A;T)

Reference

GRCh38 38.1/141

Chromosome

18

Position

49378592

Gene

DYM

is a	snp
is	mentioned by
dbSNP	rs120074162
dbSNP (classic)	rs120074162
ClinGen	rs120074162
ebi	rs120074162
HLI	rs120074162
Exac	rs120074162
Gnomad	rs120074162
Varsome	rs120074162
LitVar	rs120074162
Map	rs120074162
PheGenI	rs120074162
Biobank	rs120074162
1000 genomes	rs120074162
hgdp	rs120074162
ensembl	rs120074162
geneview	rs120074162
scholar	rs120074162
google	rs120074162
pharmgkb	rs120074162
gwascentral	rs120074162
openSNP	rs120074162
23andMe	rs120074162
SNPshot	rs120074162
SNPdbe	rs120074162
MSV3d	rs120074162
GWAS Ctlg	rs120074162

Max Magnitude

0

OMIM	607461
Desc
Variant	0003
Related	also

ClinVar
Risk	rs120074162(A;A)
Alt	rs120074162(A;A)
Reference	Rs120074162(T;T)
Significance	Pathogenic
Disease	Dyggve-Melchior-Clausen syndrome
Variation	info
Gene	DYM
CLNDBN	Dyggve-Melchior-Clausen syndrome
Reversed	1
HGVS	NC_000018.9:g.46904962A>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000003336.3,