rs74315519

Orientation

minus

Stabilized

minus

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

Make rs74315519(C;G)

Make rs74315519(G;G)

Reference

GRCh37 37.1/132

Chromosome

22

Position

38373950

Gene

SOX10

is a	snp
is	mentioned by
dbSNP	rs74315519
dbSNP (classic)	rs74315519
ClinGen	rs74315519
ebi	rs74315519
HLI	rs74315519
Exac	rs74315519
Gnomad	rs74315519
Varsome	rs74315519
LitVar	rs74315519
Map	rs74315519
PheGenI	rs74315519
Biobank	rs74315519
1000 genomes	rs74315519
hgdp	rs74315519
ensembl	rs74315519
geneview	rs74315519
scholar	rs74315519
google	rs74315519
pharmgkb	rs74315519
gwascentral	rs74315519
openSNP	rs74315519
23andMe	rs74315519
SNPshot	rs74315519
SNPdbe	rs74315519
MSV3d	rs74315519
GWAS Ctlg	rs74315519

Status

Deleted

Max Magnitude

0

OMIM	602229
Desc
Variant	0009
Related	also

ClinVar
Risk	rs74315519(G;G)
Alt	rs74315519(G;G)
Reference	Rs74315519(C;C)
Significance	Pathogenic
Disease	Waardenburg syndrome
Variation	info
Gene	SOX10
CLNDBN	Waardenburg syndrome, type 4c
Reversed	1
HGVS	NC_000022.10:g.38373950G>C
CLNSRC	OMIM Allelic Variant
CLNACC	SCV000028030.1,