rs1057518781

Orientation

plus

Stabilized

plus

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

Make rs1057518781(C;C)

Make rs1057518781(C;G)

Reference

GRCh38.p7 38.3/150

Chromosome

19

Position

7527961

Gene

MCOLN1

is a	snp
is	mentioned by
dbSNP	rs1057518781
dbSNP (classic)	rs1057518781
ClinGen	rs1057518781
ebi	rs1057518781
HLI	rs1057518781
Exac	rs1057518781
Gnomad	rs1057518781
Varsome	rs1057518781
LitVar	rs1057518781
Map	rs1057518781
PheGenI	rs1057518781
Biobank	rs1057518781
1000 genomes	rs1057518781
hgdp	rs1057518781
ensembl	rs1057518781
geneview	rs1057518781
scholar	rs1057518781
google	rs1057518781
pharmgkb	rs1057518781
gwascentral	rs1057518781
openSNP	rs1057518781
23andMe	rs1057518781
SNPshot	rs1057518781
SNPdbe	rs1057518781
MSV3d	rs1057518781
GWAS Ctlg	rs1057518781

Max Magnitude

0

ClinVar
Risk	rs1057518781(C;C)
Alt	rs1057518781(C;C)
Reference	Rs1057518781(G;G)
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.7592847G>C
CLNSRC
CLNACC	RCV000415069.1,