rs879253734

Orientation

plus

Stabilized

plus

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

Make rs879253734(-;-)

Make rs879253734(-;GTCT)

Make rs879253734(GTCT;GTCT)

Reference

GRCh38.p2 38.2/147

Chromosome

10

Position

94596894

Gene

HELLS

is a	snp
is	mentioned by
dbSNP	rs879253734
dbSNP (classic)	rs879253734
ClinGen	rs879253734
ebi	rs879253734
HLI	rs879253734
Exac	rs879253734
Gnomad	rs879253734
Varsome	rs879253734
LitVar	rs879253734
Map	rs879253734
PheGenI	rs879253734
Biobank	rs879253734
1000 genomes	rs879253734
hgdp	rs879253734
ensembl	rs879253734
geneview	rs879253734
scholar	rs879253734
google	rs879253734
pharmgkb	rs879253734
gwascentral	rs879253734
openSNP	rs879253734
23andMe	rs879253734
SNPshot	rs879253734
SNPdbe	rs879253734
MSV3d	rs879253734
GWAS Ctlg	rs879253734

Max Magnitude

0

ClinVar
Risk	rs879253734(-;-)
Alt	rs879253734(-;-)
Reference	Rs879253734(TCTG;TCTG)
Significance	Pathogenic
Disease	Immunodeficiency-centromeric instability-facial anomalies syndrome 4
Variation	info
Gene	HELLS
CLNDBN	Immunodeficiency-centromeric instability-facial anomalies syndrome 4
Reversed	0
HGVS	NC_000010.10:g.96356651_96356654delGTCT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000210919.1,