rs387907360

Orientation

plus

Stabilized

plus

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

Make rs387907360(A;A)

Make rs387907360(A;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

71128686

Gene

MED12

is a	snp
is	mentioned by
dbSNP	rs387907360
dbSNP (classic)	rs387907360
ClinGen	rs387907360
ebi	rs387907360
HLI	rs387907360
Exac	rs387907360
Gnomad	rs387907360
Varsome	rs387907360
LitVar	rs387907360
Map	rs387907360
PheGenI	rs387907360
Biobank	rs387907360
1000 genomes	rs387907360
hgdp	rs387907360
ensembl	rs387907360
geneview	rs387907360
scholar	rs387907360
google	rs387907360
pharmgkb	rs387907360
gwascentral	rs387907360
openSNP	rs387907360
23andMe	rs387907360
SNPshot	rs387907360
SNPdbe	rs387907360
MSV3d	rs387907360
GWAS Ctlg	rs387907360

Max Magnitude

0

ClinVar
Risk	rs387907360(A;A)
Alt	rs387907360(A;A)
Reference	Rs387907360(G;G)
Significance	Pathogenic
Disease	Ohdo syndrome
Variation	info
Gene	MED12
CLNDBN	Ohdo syndrome, X-linked
Reversed	0
HGVS	NC_000023.10:g.70348536G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000043499.14,