rs1057518949

Orientation

minus

Stabilized

minus

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

Make rs1057518949(A;C)

Make rs1057518949(C;C)

Reference

GRCh38.p7 38.3/150

Chromosome

7

Position

128398560

Gene

IMPDH1

is a	snp
is	mentioned by
dbSNP	rs1057518949
dbSNP (classic)	rs1057518949
ClinGen	rs1057518949
ebi	rs1057518949
HLI	rs1057518949
Exac	rs1057518949
Gnomad	rs1057518949
Varsome	rs1057518949
LitVar	rs1057518949
Map	rs1057518949
PheGenI	rs1057518949
Biobank	rs1057518949
1000 genomes	rs1057518949
hgdp	rs1057518949
ensembl	rs1057518949
geneview	rs1057518949
scholar	rs1057518949
google	rs1057518949
pharmgkb	rs1057518949
gwascentral	rs1057518949
openSNP	rs1057518949
23andMe	rs1057518949
SNPshot	rs1057518949
SNPdbe	rs1057518949
MSV3d	rs1057518949
GWAS Ctlg	rs1057518949

Max Magnitude

0

ClinVar
Risk	rs1057518949(C;C)
Alt	rs1057518949(C;C)
Reference	Rs1057518949(A;A)
Significance	Probable-Pathogenic
Disease	Retinitis pigmentosa
Variation	info
Gene	IMPDH1
CLNDBN	Retinitis pigmentosa
Reversed	1
HGVS	NC_000007.13:g.128038614T>G
CLNSRC
CLNACC	RCV000415244.1,