rs397514735

Orientation

plus

Stabilized

plus

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

Make rs397514735(G;G)

Make rs397514735(G;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

10795378

Gene

DNM2

is a	snp
is	mentioned by
dbSNP	rs397514735
dbSNP (classic)	rs397514735
ClinGen	rs397514735
ebi	rs397514735
HLI	rs397514735
Exac	rs397514735
Gnomad	rs397514735
Varsome	rs397514735
LitVar	rs397514735
Map	rs397514735
PheGenI	rs397514735
Biobank	rs397514735
1000 genomes	rs397514735
hgdp	rs397514735
ensembl	rs397514735
geneview	rs397514735
scholar	rs397514735
google	rs397514735
pharmgkb	rs397514735
gwascentral	rs397514735
openSNP	rs397514735
23andMe	rs397514735
SNPshot	rs397514735
SNPdbe	rs397514735
MSV3d	rs397514735
GWAS Ctlg	rs397514735

Max Magnitude

0

ClinVar
Risk	rs397514735(G;G)
Alt	rs397514735(G;G)
Reference	Rs397514735(T;T)
Significance	Pathogenic
Disease	Lethal congenital contracture syndrome 5
Variation	info
Gene	DNM2
CLNDBN	Lethal congenital contracture syndrome 5
Reversed	0
HGVS	NC_000019.9:g.10906054T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000054501.5,