rs1057518895

Orientation

minus

Stabilized

minus

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

Make rs1057518895(C;C)

Make rs1057518895(C;T)

Reference

GRCh38.p7 38.3/150

Chromosome

X

Position

130137134

Gene	AIFM1, RAB33A

is a	snp
is	mentioned by
dbSNP	rs1057518895
dbSNP (classic)	rs1057518895
ClinGen	rs1057518895
ebi	rs1057518895
HLI	rs1057518895
Exac	rs1057518895
Gnomad	rs1057518895
Varsome	rs1057518895
LitVar	rs1057518895
Map	rs1057518895
PheGenI	rs1057518895
Biobank	rs1057518895
1000 genomes	rs1057518895
hgdp	rs1057518895
ensembl	rs1057518895
geneview	rs1057518895
scholar	rs1057518895
google	rs1057518895
pharmgkb	rs1057518895
gwascentral	rs1057518895
openSNP	rs1057518895
23andMe	rs1057518895
SNPshot	rs1057518895
SNPdbe	rs1057518895
MSV3d	rs1057518895
GWAS Ctlg	rs1057518895

Max Magnitude

0

ClinVar
Risk	rs1057518895(C;C)
Alt	rs1057518895(C;C)
Reference	Rs1057518895(T;T)
Significance	Probable-Pathogenic
Disease	Distal muscle weakness Foot dorsiflexor weakness Pes planus Sensorineural hearing impairment
Variation	info
Gene	AIFM1
CLNDBN	Distal muscle weakness Foot dorsiflexor weakness Pes planus Sensorineural hearing impairment
Reversed	1
HGVS	NC_000023.10:g.129271109A>G
CLNSRC
CLNACC	RCV000415225.1,