rs387906890

Orientation

minus

Stabilized

minus

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

Make rs387906890(C;T)

Make rs387906890(T;T)

Reference

GRCh38 38.1/141

Chromosome

4

Position

169590743

Gene

NEK1

is a	snp
is	mentioned by
dbSNP	rs387906890
dbSNP (classic)	rs387906890
ClinGen	rs387906890
ebi	rs387906890
HLI	rs387906890
Exac	rs387906890
Gnomad	rs387906890
Varsome	rs387906890
LitVar	rs387906890
Map	rs387906890
PheGenI	rs387906890
Biobank	rs387906890
1000 genomes	rs387906890
hgdp	rs387906890
ensembl	rs387906890
geneview	rs387906890
scholar	rs387906890
google	rs387906890
pharmgkb	rs387906890
gwascentral	rs387906890
openSNP	rs387906890
23andMe	rs387906890
SNPshot	rs387906890
SNPdbe	rs387906890
MSV3d	rs387906890
GWAS Ctlg	rs387906890

Max Magnitude

0

ClinVar
Risk	rs387906890(T;T)
Alt	rs387906890(T;T)
Reference	Rs387906890(C;C)
Significance	Pathogenic
Disease	Short rib-polydactyly syndrome
Variation	info
Gene	NEK1
CLNDBN	Short rib-polydactyly syndrome, Majewski type
Reversed	1
HGVS	NC_000004.11:g.170511894G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000023381.5,