rs587777278

Orientation

plus

Stabilized

plus

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

Make rs587777278(A;A)

Make rs587777278(A;T)

Reference

GRCh38 38.1/142

Chromosome

2

Position

218662894

Gene

BCS1L

is a	snp
is	mentioned by
dbSNP	rs587777278
dbSNP (classic)	rs587777278
ClinGen	rs587777278
ebi	rs587777278
HLI	rs587777278
Exac	rs587777278
Gnomad	rs587777278
Varsome	rs587777278
LitVar	rs587777278
Map	rs587777278
PheGenI	rs587777278
Biobank	rs587777278
1000 genomes	rs587777278
hgdp	rs587777278
ensembl	rs587777278
geneview	rs587777278
scholar	rs587777278
google	rs587777278
pharmgkb	rs587777278
gwascentral	rs587777278
openSNP	rs587777278
23andMe	rs587777278
SNPshot	rs587777278
SNPdbe	rs587777278
MSV3d	rs587777278
GWAS Ctlg	rs587777278

Max Magnitude

0

ClinVar
Risk	rs587777278(A;A)
Alt	rs587777278(A;A)
Reference	Rs587777278(T;T)
Significance	Pathogenic
Disease	Pili torti-deafness syndrome
Variation	info
Gene	BCS1L
CLNDBN	Pili torti-deafness syndrome
Reversed	0
HGVS	NC_000002.11:g.219527617T>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000114392.2,