rs121917888

Orientation

plus

Stabilized

plus

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

Make rs121917888(C;T)

Make rs121917888(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

11120974

Gene

HCCS

is a	snp
is	mentioned by
dbSNP	rs121917888
dbSNP (classic)	rs121917888
ClinGen	rs121917888
ebi	rs121917888
HLI	rs121917888
Exac	rs121917888
Gnomad	rs121917888
Varsome	rs121917888
LitVar	rs121917888
Map	rs121917888
PheGenI	rs121917888
Biobank	rs121917888
1000 genomes	rs121917888
hgdp	rs121917888
ensembl	rs121917888
geneview	rs121917888
scholar	rs121917888
google	rs121917888
pharmgkb	rs121917888
gwascentral	rs121917888
openSNP	rs121917888
23andMe	rs121917888
SNPshot	rs121917888
SNPdbe	rs121917888
MSV3d	rs121917888
GWAS Ctlg	rs121917888

Max Magnitude

0

ClinVar
Risk	rs121917888(T;T)
Alt	rs121917888(T;T)
Reference	Rs121917888(C;C)
Significance	Pathogenic
Disease	Linear skin defects with multiple congenital anomalies 1
Variation	info
Gene	HCCS
CLNDBN	Linear skin defects with multiple congenital anomalies 1
Reversed	0
HGVS	NC_000023.10:g.11139094C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000020631.4,

OMIM	309801
Desc
Variant
Related	also