rs1057518656

Orientation

minus

Stabilized

minus

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

Make rs1057518656(C;G)

Make rs1057518656(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

22

Position

37983469

Gene	POLR2F, SOX10

is a	snp
is	mentioned by
dbSNP	rs1057518656
dbSNP (classic)	rs1057518656
ClinGen	rs1057518656
ebi	rs1057518656
HLI	rs1057518656
Exac	rs1057518656
Gnomad	rs1057518656
Varsome	rs1057518656
LitVar	rs1057518656
Map	rs1057518656
PheGenI	rs1057518656
Biobank	rs1057518656
1000 genomes	rs1057518656
hgdp	rs1057518656
ensembl	rs1057518656
geneview	rs1057518656
scholar	rs1057518656
google	rs1057518656
pharmgkb	rs1057518656
gwascentral	rs1057518656
openSNP	rs1057518656
23andMe	rs1057518656
SNPshot	rs1057518656
SNPdbe	rs1057518656
MSV3d	rs1057518656
GWAS Ctlg	rs1057518656

Max Magnitude

0

ClinVar
Risk	rs1057518656(G;G)
Alt	rs1057518656(G;G)
Reference	Rs1057518656(C;C)
Significance	Probable-Pathogenic
Disease	Waardenburg syndrome type 2E
Variation	info
Gene	SOX10 POLR2F
CLNDBN	Waardenburg syndrome type 2E
Reversed	1
HGVS	NC_000022.10:g.38379476G>C
CLNSRC
CLNACC	RCV000415328.1,