rs1057518961

Orientation

plus

Stabilized

plus

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

Make rs1057518961(C;T)

Make rs1057518961(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

14

Position

102012450

Gene

DYNC1H1

is a	snp
is	mentioned by
dbSNP	rs1057518961
dbSNP (classic)	rs1057518961
ClinGen	rs1057518961
ebi	rs1057518961
HLI	rs1057518961
Exac	rs1057518961
Gnomad	rs1057518961
Varsome	rs1057518961
LitVar	rs1057518961
Map	rs1057518961
PheGenI	rs1057518961
Biobank	rs1057518961
1000 genomes	rs1057518961
hgdp	rs1057518961
ensembl	rs1057518961
geneview	rs1057518961
scholar	rs1057518961
google	rs1057518961
pharmgkb	rs1057518961
gwascentral	rs1057518961
openSNP	rs1057518961
23andMe	rs1057518961
SNPshot	rs1057518961
SNPdbe	rs1057518961
MSV3d	rs1057518961
GWAS Ctlg	rs1057518961

Max Magnitude

0

ClinVar
Risk	rs1057518961(T;T)
Alt	rs1057518961(T;T)
Reference	Rs1057518961(C;C)
Significance	Probable-Pathogenic
Disease	Delayed gross motor development Delayed speech and language development Global developmental delay Microcephaly Seizures
Variation	info
Gene	DYNC1H1
CLNDBN	Delayed gross motor development Delayed speech and language development Global developmental delay Microcephaly Seizures
Reversed	0
HGVS	NC_000014.8:g.102478787C>T
CLNSRC
CLNACC	RCV000414777.1,