rs121909117

Orientation

minus

Stabilized

minus

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

Make rs121909117(C;T)

Make rs121909117(T;T)

Reference

GRCh38 38.1/141

Chromosome

22

Position

37978094

Gene	POLR2F, SOX10

is a	snp
is	mentioned by
dbSNP	rs121909117
dbSNP (classic)	rs121909117
ClinGen	rs121909117
ebi	rs121909117
HLI	rs121909117
Exac	rs121909117
Gnomad	rs121909117
Varsome	rs121909117
LitVar	rs121909117
Map	rs121909117
PheGenI	rs121909117
Biobank	rs121909117
1000 genomes	rs121909117
hgdp	rs121909117
ensembl	rs121909117
geneview	rs121909117
scholar	rs121909117
google	rs121909117
pharmgkb	rs121909117
gwascentral	rs121909117
openSNP	rs121909117
23andMe	rs121909117
SNPshot	rs121909117
SNPdbe	rs121909117
MSV3d	rs121909117
GWAS Ctlg	rs121909117

Max Magnitude

0

OMIM	602229
Desc
Variant	0016
Related	also

ClinVar
Risk	rs121909117(T;T)
Alt	rs121909117(T;T)
Reference	Rs121909117(C;C)
Significance	Pathogenic
Disease	Waardenburg syndrome type 4C
Variation	info
Gene	SOX10 POLR2F
CLNDBN	Waardenburg syndrome type 4C
Reversed	1
HGVS	NC_000022.10:g.38374101G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007833.6,