rs397515368

Orientation

minus

Stabilized

minus

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

Make rs397515368(-;-)

Make rs397515368(-;AAAGGGGGCCCT)

Reference

GRCh38 38.1/141

Chromosome

22

Position

37973485

Gene

POLR2F

is a	snp
is	mentioned by
dbSNP	rs397515368
dbSNP (classic)	rs397515368
ClinGen	rs397515368
ebi	rs397515368
HLI	rs397515368
Exac	rs397515368
Gnomad	rs397515368
Varsome	rs397515368
LitVar	rs397515368
Map	rs397515368
PheGenI	rs397515368
Biobank	rs397515368
1000 genomes	rs397515368
hgdp	rs397515368
ensembl	rs397515368
geneview	rs397515368
scholar	rs397515368
google	rs397515368
pharmgkb	rs397515368
gwascentral	rs397515368
openSNP	rs397515368
23andMe	rs397515368
SNPshot	rs397515368
SNPdbe	rs397515368
MSV3d	rs397515368
GWAS Ctlg	rs397515368

Max Magnitude

0

ClinVar
Risk	rs397515368(-;-)
Alt	rs397515368(-;-)
Reference	Rs397515368(AAAGGGGGCCCT;AAAGGGGGCCCT)
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.38369492_38369503delAGGGCCCCCTTT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000007824.4,