rs398122837

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(AT;AT)	0	common in clinvar
(I;I)	0	common genotype
(TA;TA)	0	common in clinvar

Make rs398122837(-;-)

Make rs398122837(-;AT)

Reference

GRCh38 38.1/141

Chromosome

8

Position

38253646

Gene

DDHD2

is a	snp
is	mentioned by
dbSNP	rs398122837
dbSNP (classic)	rs398122837
ClinGen	rs398122837
ebi	rs398122837
HLI	rs398122837
Exac	rs398122837
Gnomad	rs398122837
Varsome	rs398122837
LitVar	rs398122837
Map	rs398122837
PheGenI	rs398122837
Biobank	rs398122837
1000 genomes	rs398122837
hgdp	rs398122837
ensembl	rs398122837
geneview	rs398122837
scholar	rs398122837
google	rs398122837
pharmgkb	rs398122837
gwascentral	rs398122837
openSNP	rs398122837
23andMe	rs398122837
SNPshot	rs398122837
SNPdbe	rs398122837
MSV3d	rs398122837
GWAS Ctlg	rs398122837

Max Magnitude

0

ClinVar
Risk	rs398122837(-;-) Rs398122837(TA;TA)
Alt	rs398122837(-;-) Rs398122837(TA;TA)
Reference	Rs398122837(AT;AT)
Significance	Pathogenic
Disease	Spastic paraplegia 54
Variation	info
Gene	DDHD2
CLNDBN	Spastic paraplegia 54, autosomal recessive
Reversed	0
HGVS	NC_000008.10:g.38111164_38111165delAT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000076918.4,