rs74315516

Orientation

minus

Stabilized

minus

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

Make rs74315516(C;G)

Make rs74315516(G;G)

Reference

GRCh38 38.1/141

Chromosome

22

Position

37973957

Gene	POLR2F, SOX10

is a	snp
is	mentioned by
dbSNP	rs74315516
dbSNP (classic)	rs74315516
ClinGen	rs74315516
ebi	rs74315516
HLI	rs74315516
Exac	rs74315516
Gnomad	rs74315516
Varsome	rs74315516
LitVar	rs74315516
Map	rs74315516
PheGenI	rs74315516
Biobank	rs74315516
1000 genomes	rs74315516
hgdp	rs74315516
ensembl	rs74315516
geneview	rs74315516
scholar	rs74315516
google	rs74315516
pharmgkb	rs74315516
gwascentral	rs74315516
openSNP	rs74315516
23andMe	rs74315516
SNPshot	rs74315516
SNPdbe	rs74315516
MSV3d	rs74315516
GWAS Ctlg	rs74315516

Max Magnitude

0

OMIM	602229
Desc
Variant	0006
Related	also

ClinVar
Risk	rs74315516(A;A) rs74315516(G;G)
Alt	rs74315516(A;A) rs74315516(G;G)
Reference	Rs74315516(C;C)
Significance	Pathogenic
Disease	Peripheral demyelinating neuropathy
Variation	info
Gene	SOX10 POLR2F
CLNDBN	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease
Reversed	1
HGVS	NC_000022.10:g.38369964G>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000007822.2,