rs80359890

Orientation

plus

Stabilized

plus

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

Make rs80359890(C;C)

Make rs80359890(C;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

149042718

Gene

SH3TC2

is a	snp
is	mentioned by
dbSNP	rs80359890
dbSNP (classic)	rs80359890
ClinGen	rs80359890
ebi	rs80359890
HLI	rs80359890
Exac	rs80359890
Gnomad	rs80359890
Varsome	rs80359890
LitVar	rs80359890
Map	rs80359890
PheGenI	rs80359890
Biobank	rs80359890
1000 genomes	rs80359890
hgdp	rs80359890
ensembl	rs80359890
geneview	rs80359890
scholar	rs80359890
google	rs80359890
pharmgkb	rs80359890
gwascentral	rs80359890
openSNP	rs80359890
23andMe	rs80359890
SNPshot	rs80359890
SNPdbe	rs80359890
MSV3d	rs80359890
GWAS Ctlg	rs80359890

Max Magnitude

0

ClinVar
Risk	rs80359890(G;G)
Alt	rs80359890(G;G)
Reference	Rs80359890(A;A)
Significance	Pathogenic
Disease	Charcot-Marie-Tooth disease Mononeuropathy of the median nerve Charcot-Marie-Tooth disease not specified Arthrogryposis multiplex congenita Congenital contracture Decreased muscle mass Hemihypertrophy Scoliosis Short lower limbs Upper limb undergrowth
Variation	info
Gene	SH3TC2
CLNDBN	Charcot-Marie-Tooth disease, type 4C Mononeuropathy of the median nerve, mild Charcot-Marie-Tooth disease, type IV not specified Arthrogryposis multiplex congenita Congenital contracture Decreased muscle mass Hemihypertrophy Scoliosis Short lower limbs Upper limb undergrowth
Reversed	0
HGVS	NC_000005.9:g.148422281A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002590.3, RCV000002591.3, RCV000199719.4, RCV000236208.2, RCV000415264.1,