rs713993043

Orientation

plus

Stabilized

plus

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

Make rs713993043(G;T)

Make rs713993043(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

14

Position

101980380

Gene

DYNC1H1

is a	snp
is	mentioned by
dbSNP	rs713993043
dbSNP (classic)	rs713993043
ClinGen	rs713993043
ebi	rs713993043
HLI	rs713993043
Exac	rs713993043
Gnomad	rs713993043
Varsome	rs713993043
LitVar	rs713993043
Map	rs713993043
PheGenI	rs713993043
Biobank	rs713993043
1000 genomes	rs713993043
hgdp	rs713993043
ensembl	rs713993043
geneview	rs713993043
scholar	rs713993043
google	rs713993043
pharmgkb	rs713993043
gwascentral	rs713993043
openSNP	rs713993043
23andMe	rs713993043
SNPshot	rs713993043
SNPdbe	rs713993043
MSV3d	rs713993043
GWAS Ctlg	rs713993043

Max Magnitude

0

ClinVar
Risk	rs713993043(A;A) rs713993043(T;T)
Alt	rs713993043(A;A) rs713993043(T;T)
Reference	Rs713993043(G;G)
Significance	Pathogenic
Disease	not specified Spinal muscular atrophy
Variation	info
Gene	DYNC1H1
CLNDBN	not specified Spinal muscular atrophy
Reversed	0
HGVS	NC_000014.8:g.102446717G>A; NC_000014.8:g.102446717G>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000193618.1, RCV000149554.1,