rs121912993

Orientation

plus

Stabilized

plus

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

Make rs121912993(G;G)

Make rs121912993(G;T)

Reference

GRCh38 38.1/141

Chromosome

6

Position

7565442

Gene

DSP

is a	snp
is	mentioned by
dbSNP	rs121912993
dbSNP (classic)	rs121912993
ClinGen	rs121912993
ebi	rs121912993
HLI	rs121912993
Exac	rs121912993
Gnomad	rs121912993
Varsome	rs121912993
LitVar	rs121912993
Map	rs121912993
PheGenI	rs121912993
Biobank	rs121912993
1000 genomes	rs121912993
hgdp	rs121912993
ensembl	rs121912993
geneview	rs121912993
scholar	rs121912993
google	rs121912993
pharmgkb	rs121912993
gwascentral	rs121912993
openSNP	rs121912993
23andMe	rs121912993
SNPshot	rs121912993
SNPdbe	rs121912993
MSV3d	rs121912993
GWAS Ctlg	rs121912993

Max Magnitude

0

OMIM	125647
Desc
Variant	0004
Related	also

ClinVar
Risk	rs121912993(G;G)
Alt	rs121912993(G;G)
Reference	Rs121912993(T;T)
Significance	Pathogenic
Disease	Skin fragility woolly hair syndrome
Variation	info
Gene	DSP
CLNDBN	Skin fragility woolly hair syndrome
Reversed	0
HGVS	NC_000006.11:g.7565675T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018333.29,