rs377637314

plus

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

Make rs377637314(A;A)

Make rs377637314(A;C)

Reference

GRCh38 38.1/141

Chromosome

2

Position

86217057

Gene

REEP1

is a	snp
is	mentioned by
dbSNP	rs377637314
dbSNP (classic)	rs377637314
ClinGen	rs377637314
ebi	rs377637314
HLI	rs377637314
Exac	rs377637314
Gnomad	rs377637314
Varsome	rs377637314
LitVar	rs377637314
Map	rs377637314
PheGenI	rs377637314
Biobank	rs377637314
1000 genomes	rs377637314
hgdp	rs377637314
ensembl	rs377637314
geneview	rs377637314
scholar	rs377637314
google	rs377637314
pharmgkb	rs377637314
gwascentral	rs377637314
openSNP	rs377637314
23andMe	rs377637314
SNPshot	rs377637314
SNPdbe	rs377637314
MSV3d	rs377637314
GWAS Ctlg	rs377637314

Max Magnitude

0

[PMID 27569544 ] A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease. This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.

ClinVar
Risk	rs377637314(A;A)
Alt	rs377637314(A;A)
Reference	Rs377637314(C;C)
Significance	Pathogenic
Disease	Spastic paraplegia 31 not specified
Variation	info
Gene	REEP1
CLNDBN	Spastic paraplegia 31, autosomal dominant not specified
Reversed	0
HGVS	NC_000002.11:g.86444180C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000001938.2, RCV000200803.3,