rs750325275

Orientation

plus

Stabilized

plus

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

Make rs750325275(A;A)

Make rs750325275(A;G)

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

121530895

Gene	CLASP1, LOC107985942, RNU4ATAC

is a	snp
is	mentioned by
dbSNP	rs750325275
dbSNP (classic)	rs750325275
ClinGen	rs750325275
ebi	rs750325275
HLI	rs750325275
Exac	rs750325275
Gnomad	rs750325275
Varsome	rs750325275
LitVar	rs750325275
Map	rs750325275
PheGenI	rs750325275
Biobank	rs750325275
1000 genomes	rs750325275
hgdp	rs750325275
ensembl	rs750325275
geneview	rs750325275
scholar	rs750325275
google	rs750325275
pharmgkb	rs750325275
gwascentral	rs750325275
openSNP	rs750325275
23andMe	rs750325275
SNPshot	rs750325275
SNPdbe	rs750325275
MSV3d	rs750325275
GWAS Ctlg	rs750325275

Max Magnitude

0

ClinVar
Risk	rs750325275(A;A) rs750325275(T;T)
Alt	rs750325275(A;A) rs750325275(T;T)
Reference	Rs750325275(G;G)
Significance	Pathogenic
Disease	Roifman syndrome
Variation	info
Gene	CLASP1 RNU4ATAC
CLNDBN	Roifman syndrome
Reversed	0
HGVS	NC_000002.11:g.122288471G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000202313.2,