rs397515502

Orientation

plus

Stabilized

plus

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

Make rs397515502(-;-)

Make rs397515502(-;CCCCAGCAAG)

Reference

GRCh38 38.1/141

Chromosome

2

Position

44942800

Gene	SIX3, SIX3-AS1

is a	snp
is	mentioned by
dbSNP	rs397515502
dbSNP (classic)	rs397515502
ClinGen	rs397515502
ebi	rs397515502
HLI	rs397515502
Exac	rs397515502
Gnomad	rs397515502
Varsome	rs397515502
LitVar	rs397515502
Map	rs397515502
PheGenI	rs397515502
Biobank	rs397515502
1000 genomes	rs397515502
hgdp	rs397515502
ensembl	rs397515502
geneview	rs397515502
scholar	rs397515502
google	rs397515502
pharmgkb	rs397515502
gwascentral	rs397515502
openSNP	rs397515502
23andMe	rs397515502
SNPshot	rs397515502
SNPdbe	rs397515502
MSV3d	rs397515502
GWAS Ctlg	rs397515502

Max Magnitude

0

ClinVar
Risk	rs397515502(-;-)
Alt	rs397515502(-;-)
Reference	Rs397515502(CCCCAGCAAG;CCCCAGCAAG)
Significance	Pathogenic
Disease	Holoprosencephaly 2
Variation	info
Gene	SIX3 SIX3-AS1
CLNDBN	Holoprosencephaly 2
Reversed	0
HGVS	NC_000002.11:g.45169939_45169948delCCCCAGCAAG
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000055688.1,