rs387907275

Orientation

plus

Stabilized

plus

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

Make rs387907275(C;T)

Make rs387907275(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

118503036

Gene

KMT2A

is a	snp
is	mentioned by
dbSNP	rs387907275
dbSNP (classic)	rs387907275
ClinGen	rs387907275
ebi	rs387907275
HLI	rs387907275
Exac	rs387907275
Gnomad	rs387907275
Varsome	rs387907275
LitVar	rs387907275
Map	rs387907275
PheGenI	rs387907275
Biobank	rs387907275
1000 genomes	rs387907275
hgdp	rs387907275
ensembl	rs387907275
geneview	rs387907275
scholar	rs387907275
google	rs387907275
pharmgkb	rs387907275
gwascentral	rs387907275
openSNP	rs387907275
23andMe	rs387907275
SNPshot	rs387907275
SNPdbe	rs387907275
MSV3d	rs387907275
GWAS Ctlg	rs387907275

Max Magnitude

0

ClinVar
Risk	rs387907275(T;T)
Alt	rs387907275(T;T)
Reference	Rs387907275(C;C)
Significance	Pathogenic
Disease	Wiedemann-Steiner syndrome
Variation	info
Gene	KMT2A
CLNDBN	Wiedemann-Steiner syndrome
Reversed	0
HGVS	NC_000011.9:g.118373751C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000030724.24,