rs61630004

minus

Geno	Mag	Summary
(A;A)	1	significance unclear; slight change related to ectodermal dysplasia
(A;G)	1	significance unclear; possibly a carrier for an ectodermal dysplasia allele
(G;G)	0	common in clinvar

Reference

GRCh38 38.1/142

Chromosome

12

Position

52367173

Gene

KRT85

is a	snp
is	mentioned by
dbSNP	rs61630004
dbSNP (classic)	rs61630004
ClinGen	rs61630004
ebi	rs61630004
HLI	rs61630004
Exac	rs61630004
Gnomad	rs61630004
Varsome	rs61630004
LitVar	rs61630004
Map	rs61630004
PheGenI	rs61630004
Biobank	rs61630004
1000 genomes	rs61630004
hgdp	rs61630004
ensembl	rs61630004
geneview	rs61630004
scholar	rs61630004
google	rs61630004
pharmgkb	rs61630004
gwascentral	rs61630004
openSNP	rs61630004
23andMe	rs61630004
SNPshot	rs61630004
SNPdbe	rs61630004
MSV3d	rs61630004
GWAS Ctlg	rs61630004

GMAF

0.02663

Max Magnitude

1

aka c.233G>A, p.Arg78His and R78H

The rs61630004(A) allele is reported as pathogenic when homozygous (i.e. recessively inherited) for "pure" ectodermal dysplasia in two sets of Pakistani families.[PMID 16525032 ], [PMID 19865094 ]

However, the minor allele frequency appears to be around 1-3% in most populations, and as GET-Evidence states, this makes it unlikely that (A;A) homozygotes are routinely afflicted by ectodermal dysplasia, since it has an incidence of only around .02-.01% (1 or 2 in 10,000).

OMIM	602767
Desc
Variant	0001
Related	also

ClinVar
Risk	Rs61630004(A;A)
Alt	Rs61630004(A;A)
Reference	Rs61630004(G;G)
Significance	Pathogenic
Disease	Ectodermal dysplasia not provided not specified
Variation	info
Gene	KRT85
CLNDBN	Ectodermal dysplasia, 'pure' hair-nail type not provided not specified
Reversed	1
HGVS	NC_000012.11:g.52760957C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007238.3, RCV000056956.1, RCV000455333.1,