rs74315514

Orientation

minus

Stabilized

minus

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

Make rs74315514(G;T)

Make rs74315514(T;T)

Reference

GRCh38 38.1/141

Chromosome

22

Position

37977999

Gene	POLR2F, SOX10

is a	snp
is	mentioned by
dbSNP	rs74315514
dbSNP (classic)	rs74315514
ClinGen	rs74315514
ebi	rs74315514
HLI	rs74315514
Exac	rs74315514
Gnomad	rs74315514
Varsome	rs74315514
LitVar	rs74315514
Map	rs74315514
PheGenI	rs74315514
Biobank	rs74315514
1000 genomes	rs74315514
hgdp	rs74315514
ensembl	rs74315514
geneview	rs74315514
scholar	rs74315514
google	rs74315514
pharmgkb	rs74315514
gwascentral	rs74315514
openSNP	rs74315514
23andMe	rs74315514
SNPshot	rs74315514
SNPdbe	rs74315514
MSV3d	rs74315514
GWAS Ctlg	rs74315514

Max Magnitude

0

OMIM	602229
Desc
Variant	0001
Related	also

ClinVar
Risk	rs74315514(T;T)
Alt	rs74315514(T;T)
Reference	Rs74315514(G;G)
Significance	Pathogenic
Disease	Waardenburg syndrome type 4C
Variation	info
Gene	SOX10 POLR2F
CLNDBN	Waardenburg syndrome type 4C
Reversed	1
HGVS	NC_000022.10:g.38374006C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000007817.3,