rs387907110

Orientation

minus

Stabilized

minus

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

Make rs387907110(C;T)

Make rs387907110(T;T)

Reference

GRCh38 38.1/141

Chromosome

4

Position

120695236

Gene

PRDM5

is a	snp
is	mentioned by
dbSNP	rs387907110
dbSNP (classic)	rs387907110
ClinGen	rs387907110
ebi	rs387907110
HLI	rs387907110
Exac	rs387907110
Gnomad	rs387907110
Varsome	rs387907110
LitVar	rs387907110
Map	rs387907110
PheGenI	rs387907110
Biobank	rs387907110
1000 genomes	rs387907110
hgdp	rs387907110
ensembl	rs387907110
geneview	rs387907110
scholar	rs387907110
google	rs387907110
pharmgkb	rs387907110
gwascentral	rs387907110
openSNP	rs387907110
23andMe	rs387907110
SNPshot	rs387907110
SNPdbe	rs387907110
MSV3d	rs387907110
GWAS Ctlg	rs387907110

Max Magnitude

0

ClinVar
Risk	rs387907110(T;T)
Alt	rs387907110(T;T)
Reference	Rs387907110(C;C)
Significance	Pathogenic
Disease	Brittle cornea syndrome 2
Variation	info
Gene	PRDM5
CLNDBN	Brittle cornea syndrome 2
Reversed	1
HGVS	NC_000004.11:g.121616391G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000024107.2,