rs74315515

Orientation

minus

Stabilized

minus

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

Make rs74315515(C;C)

Make rs74315515(C;G)

Reference

GRCh38 38.1/141

Chromosome

22

Position

37983381

Gene	POLR2F, SOX10

is a	snp
is	mentioned by
dbSNP	rs74315515
dbSNP (classic)	rs74315515
ClinGen	rs74315515
ebi	rs74315515
HLI	rs74315515
Exac	rs74315515
Gnomad	rs74315515
Varsome	rs74315515
LitVar	rs74315515
Map	rs74315515
PheGenI	rs74315515
Biobank	rs74315515
1000 genomes	rs74315515
hgdp	rs74315515
ensembl	rs74315515
geneview	rs74315515
scholar	rs74315515
google	rs74315515
pharmgkb	rs74315515
gwascentral	rs74315515
openSNP	rs74315515
23andMe	rs74315515
SNPshot	rs74315515
SNPdbe	rs74315515
MSV3d	rs74315515
GWAS Ctlg	rs74315515

Max Magnitude

0

OMIM	602229
Desc
Variant	0005
Related	also

ClinVar
Risk	rs74315515(C;C)
Alt	rs74315515(C;C)
Reference	Rs74315515(G;G)
Significance	Pathogenic
Disease	Waardenburg syndrome type 2E
Variation	info
Gene	SOX10 POLR2F
CLNDBN	Waardenburg syndrome type 2E, without neurologic involvement
Reversed	1
HGVS	NC_000022.10:g.38379388C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007821.3,