rs1057518782

Orientation

plus

Stabilized

plus

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

Make rs1057518782(C;G)

Make rs1057518782(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

19

Position

7526579

Gene	LOC105372261, MCOLN1

is a	snp
is	mentioned by
dbSNP	rs1057518782
dbSNP (classic)	rs1057518782
ClinGen	rs1057518782
ebi	rs1057518782
HLI	rs1057518782
Exac	rs1057518782
Gnomad	rs1057518782
Varsome	rs1057518782
LitVar	rs1057518782
Map	rs1057518782
PheGenI	rs1057518782
Biobank	rs1057518782
1000 genomes	rs1057518782
hgdp	rs1057518782
ensembl	rs1057518782
geneview	rs1057518782
scholar	rs1057518782
google	rs1057518782
pharmgkb	rs1057518782
gwascentral	rs1057518782
openSNP	rs1057518782
23andMe	rs1057518782
SNPshot	rs1057518782
SNPdbe	rs1057518782
MSV3d	rs1057518782
GWAS Ctlg	rs1057518782

Max Magnitude

0

ClinVar
Risk	rs1057518782(G;G) rs1057518782(T;T)
Alt	rs1057518782(G;G) rs1057518782(T;T)
Reference	Rs1057518782(C;C)
Significance	Probable-Pathogenic
Disease	Atrophy/Degeneration affecting the brainstem Corneal opacity Delayed myelination Delayed speech and language development Growth delay Intellectual disability Periventricular leukomalacia
Variation	info
Gene	MCOLN1
CLNDBN	Atrophy/Degeneration affecting the brainstem Corneal opacity Delayed myelination Delayed speech and language development Growth delay Intellectual disability Periventricular leukomalacia
Reversed	0
HGVS	NC_000019.9:g.7591465C>G
CLNSRC
CLNACC	RCV000415330.1,