rs1057519088

Orientation

plus

Stabilized

plus

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

Make rs1057519088(-;-)

Make rs1057519088(-;T)

Reference

GRCh38.p7 38.3/150

Chromosome

8

Position

125182184

Gene

NSMCE2

is a	snp
is	mentioned by
dbSNP	rs1057519088
dbSNP (classic)	rs1057519088
ClinGen	rs1057519088
ebi	rs1057519088
HLI	rs1057519088
Exac	rs1057519088
Gnomad	rs1057519088
Varsome	rs1057519088
LitVar	rs1057519088
Map	rs1057519088
PheGenI	rs1057519088
Biobank	rs1057519088
1000 genomes	rs1057519088
hgdp	rs1057519088
ensembl	rs1057519088
geneview	rs1057519088
scholar	rs1057519088
google	rs1057519088
pharmgkb	rs1057519088
gwascentral	rs1057519088
openSNP	rs1057519088
23andMe	rs1057519088
SNPshot	rs1057519088
SNPdbe	rs1057519088
MSV3d	rs1057519088
GWAS Ctlg	rs1057519088

Max Magnitude

0

ClinVar
Risk	rs1057519088(-;-)
Alt	rs1057519088(-;-)
Reference	Rs1057519088(T;T)
Significance	Pathogenic
Disease	Seckel syndrome 10
Variation	info
Gene	NSMCE2
CLNDBN	Seckel syndrome 10
Reversed	0
HGVS	NC_000008.10:g.126194426delT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000412505.1,