rs387907361

Orientation

plus

Stabilized

plus

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

Make rs387907361(C;C)

Make rs387907361(C;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

71129131

Gene

MED12

is a	snp
is	mentioned by
dbSNP	rs387907361
dbSNP (classic)	rs387907361
ClinGen	rs387907361
ebi	rs387907361
HLI	rs387907361
Exac	rs387907361
Gnomad	rs387907361
Varsome	rs387907361
LitVar	rs387907361
Map	rs387907361
PheGenI	rs387907361
Biobank	rs387907361
1000 genomes	rs387907361
hgdp	rs387907361
ensembl	rs387907361
geneview	rs387907361
scholar	rs387907361
google	rs387907361
pharmgkb	rs387907361
gwascentral	rs387907361
openSNP	rs387907361
23andMe	rs387907361
SNPshot	rs387907361
SNPdbe	rs387907361
MSV3d	rs387907361
GWAS Ctlg	rs387907361

Max Magnitude

0

ClinVar
Risk	rs387907361(C;C)
Alt	rs387907361(C;C)
Reference	Rs387907361(T;T)
Significance	Pathogenic
Disease	Ohdo syndrome
Variation	info
Gene	MED12
CLNDBN	Ohdo syndrome, X-linked
Reversed	0
HGVS	NC_000023.10:g.70348981T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000043500.24,