rs387907111

Orientation

minus

Stabilized

minus

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

Make rs387907111(A;G)

Make rs387907111(G;G)

Reference

GRCh38 38.1/141

Chromosome

4

Position

120821326

Gene

PRDM5

is a	snp
is	mentioned by
dbSNP	rs387907111
dbSNP (classic)	rs387907111
ClinGen	rs387907111
ebi	rs387907111
HLI	rs387907111
Exac	rs387907111
Gnomad	rs387907111
Varsome	rs387907111
LitVar	rs387907111
Map	rs387907111
PheGenI	rs387907111
Biobank	rs387907111
1000 genomes	rs387907111
hgdp	rs387907111
ensembl	rs387907111
geneview	rs387907111
scholar	rs387907111
google	rs387907111
pharmgkb	rs387907111
gwascentral	rs387907111
openSNP	rs387907111
23andMe	rs387907111
SNPshot	rs387907111
SNPdbe	rs387907111
MSV3d	rs387907111
GWAS Ctlg	rs387907111

Max Magnitude

0

ClinVar
Risk	rs387907111(G;G)
Alt	rs387907111(G;G)
Reference	Rs387907111(A;A)
Significance	Pathogenic
Disease	Brittle cornea syndrome 2
Variation	info
Gene	PRDM5
CLNDBN	Brittle cornea syndrome 2
Reversed	1
HGVS	NC_000004.11:g.121742481T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000024109.2,