rs121908539

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	0	common in complete genomics

Make rs121908539(A;T)

Make rs121908539(T;T)

Reference

GRCh38 38.1/141

Chromosome

14

Position

66508555

Gene

GPHN

is a	snp
is	mentioned by
dbSNP	rs121908539
dbSNP (classic)	rs121908539
ClinGen	rs121908539
ebi	rs121908539
HLI	rs121908539
Exac	rs121908539
Gnomad	rs121908539
Varsome	rs121908539
LitVar	rs121908539
Map	rs121908539
PheGenI	rs121908539
Biobank	rs121908539
1000 genomes	rs121908539
hgdp	rs121908539
ensembl	rs121908539
geneview	rs121908539
scholar	rs121908539
google	rs121908539
pharmgkb	rs121908539
gwascentral	rs121908539
openSNP	rs121908539
23andMe	rs121908539
SNPshot	rs121908539
SNPdbe	rs121908539
MSV3d	rs121908539
GWAS Ctlg	rs121908539

Max Magnitude

0

OMIM	603930
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121908539(T;T)
Alt	rs121908539(T;T)
Reference	Rs121908539(A;A)
Significance	Pathogenic
Disease	Hyperekplexia Hyperekplexia hereditary
Variation	info
Gene	GPHN
CLNDBN	Hyperekplexia Hyperekplexia hereditary
Reversed	0
HGVS	NC_000014.8:g.66975273A>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006337.2, RCV000031964.2,