rs397515388

Orientation

minus

Stabilized

plus

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

Make rs397515388(-;AGCG)

Make rs397515388(AGCG;AGCG)

Reference

GRCh38 38.1/141

Chromosome

1

Position

145926616

Gene	LOC105371260, RBM8A

is a	snp
is	mentioned by
dbSNP	rs397515388
dbSNP (classic)	rs397515388
ClinGen	rs397515388
ebi	rs397515388
HLI	rs397515388
Exac	rs397515388
Gnomad	rs397515388
Varsome	rs397515388
LitVar	rs397515388
Map	rs397515388
PheGenI	rs397515388
Biobank	rs397515388
1000 genomes	rs397515388
hgdp	rs397515388
ensembl	rs397515388
geneview	rs397515388
scholar	rs397515388
google	rs397515388
pharmgkb	rs397515388
gwascentral	rs397515388
openSNP	rs397515388
23andMe	rs397515388
SNPshot	rs397515388
SNPdbe	rs397515388
MSV3d	rs397515388
GWAS Ctlg	rs397515388

Max Magnitude

0

ClinVar
Risk	rs397515388(AGCG;AGCG)
Alt	rs397515388(AGCG;AGCG)
Reference	Rs397515388(-;-)
Significance	Pathogenic
Disease	Radial aplasia-thrombocytopenia syndrome
Variation	info
Gene	RBM8A
CLNDBN	Radial aplasia-thrombocytopenia syndrome
Reversed	0
HGVS	NC_000001.10:g.145508476_145508477insAGCG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000023420.6,