rs121908577

Orientation

plus

Stabilized

plus

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

Make rs121908577(A;A)

Make rs121908577(A;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

218661846

Gene

BCS1L

is a	snp
is	mentioned by
dbSNP	rs121908577
dbSNP (classic)	rs121908577
ClinGen	rs121908577
ebi	rs121908577
HLI	rs121908577
Exac	rs121908577
Gnomad	rs121908577
Varsome	rs121908577
LitVar	rs121908577
Map	rs121908577
PheGenI	rs121908577
Biobank	rs121908577
1000 genomes	rs121908577
hgdp	rs121908577
ensembl	rs121908577
geneview	rs121908577
scholar	rs121908577
google	rs121908577
pharmgkb	rs121908577
gwascentral	rs121908577
openSNP	rs121908577
23andMe	rs121908577
SNPshot	rs121908577
SNPdbe	rs121908577
MSV3d	rs121908577
GWAS Ctlg	rs121908577

Max Magnitude

0

OMIM	603647
Desc
Variant	0008
Related	also

ClinVar
Risk	rs121908577(A;A)
Alt	rs121908577(A;A)
Reference	Rs121908577(G;G)
Significance	Pathogenic
Disease	Pili torti-deafness syndrome
Variation	info
Gene	BCS1L
CLNDBN	Pili torti-deafness syndrome
Reversed	0
HGVS	NC_000002.11:g.219526569G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006545.4,