rs121912995

Orientation

plus

Stabilized

plus

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

Make rs121912995(C;T)

Make rs121912995(T;T)

Reference

GRCh38 38.1/141

Chromosome

6

Position

7571928

Gene

DSP

is a	snp
is	mentioned by
dbSNP	rs121912995
dbSNP (classic)	rs121912995
ClinGen	rs121912995
ebi	rs121912995
HLI	rs121912995
Exac	rs121912995
Gnomad	rs121912995
Varsome	rs121912995
LitVar	rs121912995
Map	rs121912995
PheGenI	rs121912995
Biobank	rs121912995
1000 genomes	rs121912995
hgdp	rs121912995
ensembl	rs121912995
geneview	rs121912995
scholar	rs121912995
google	rs121912995
pharmgkb	rs121912995
gwascentral	rs121912995
openSNP	rs121912995
23andMe	rs121912995
SNPshot	rs121912995
SNPdbe	rs121912995
MSV3d	rs121912995
GWAS Ctlg	rs121912995

Max Magnitude

0

OMIM	125647
Desc
Variant	0007
Related	also

ClinVar
Risk	rs121912995(T;T)
Alt	rs121912995(T;T)
Reference	Rs121912995(C;C)
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.7572161C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018336.29,