rs397704714

Orientation

minus

Stabilized

minus

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

Make rs397704714(-;TAAGAGC)

Make rs397704714(TAAGAGC;TAAGAGC)

Reference

GRCh38 38.1/141

Chromosome

20

Position

25307980

Gene

ABHD12

is a	snp
is	mentioned by
dbSNP	rs397704714
dbSNP (classic)	rs397704714
ClinGen	rs397704714
ebi	rs397704714
HLI	rs397704714
Exac	rs397704714
Gnomad	rs397704714
Varsome	rs397704714
LitVar	rs397704714
Map	rs397704714
PheGenI	rs397704714
Biobank	rs397704714
1000 genomes	rs397704714
hgdp	rs397704714
ensembl	rs397704714
geneview	rs397704714
scholar	rs397704714
google	rs397704714
pharmgkb	rs397704714
gwascentral	rs397704714
openSNP	rs397704714
23andMe	rs397704714
SNPshot	rs397704714
SNPdbe	rs397704714
MSV3d	rs397704714
GWAS Ctlg	rs397704714

Max Magnitude

0

ClinVar
Risk	rs397704714(TAAGAGC;TAAGAGC)
Alt	rs397704714(TAAGAGC;TAAGAGC)
Reference	Rs397704714(-;-)
Significance	Pathogenic
Disease	Polyneuropathy
Variation	info
Gene	ABHD12
CLNDBN	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
Reversed	1
HGVS	NC_000020.10:g.25288617_25288623dupGCTCTTA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000000043.3,