ADB - Albinism db (Mutations in human genes causing albinism)

Alpha-glucosidase - Information about human acid alpha-glucosidase (GSD-II)

AR mutations - Human androgen receptor mutation db

Antithrombin mutation db

Asthma and Allergy gene db

BIOMDB - Db of mutations causing tetrahydrobiopterin deficiencies

BLMbase - Human BLM mutation db (Bloom snydrom)

BTKbase - Human BTK mutation db (X-linked agammaglobulinemia)

CD40Lbase - Human CD40 ligand mutation db

COL1/3 mutation - Human Type I and III collagen mutation db

CFTR mutation - Human cystic fibrosis mutation db (CFTR)

EMD db - Human Emerin (EMD) mutation db (Emery-Dreifuss muscular dystrophy)

KMeyeDB - Eye disease genes db

FVII mutation - Human Factor VII mutation db

HAMSTeRS - Human Factor VIII mutation db (Haemophilia A)

HAeMB - Human Factor IX mutation db (Haemophilia B)

FBN1 mutation - Human fibrillin 1 mutation db (Marfan syndrome)

G6PD - Human G6PD deficiency resource

Galt mutation - Human galactose-1-phosphate uridylyltransferase mutation db (Galactosemia)

HEXAdb - Human Hexosaminidase A mutation db (Tay-sachs disease)

IL2RGbase - Human IL2RG (Interleukin-2 receptor gamma) mutation db (X-SCID)

L1CAM mutation - Human L1CAM mutation db

LDLR mutation - Human LDLR mutation db (Familial hypercholesterolemia)

LQTSdb - Long QT syndrome db

NCF1base - Human NCF1 mutation db

NCF2base - Human NCF2 mutation db

Neuromuscular diseases web site

NCL - Neuronal Ceroid Lipofuscinoses mutation db

OTCase - Human ornithine transcarbamylase (OTCase) website

Cytochrome P450 alleles nomenclature

p53.genome.ad.jp/">p53 mutation db - University of Tokyo p53 mutation db

Germline p53 mutation db - University of Prague db of germline p53 mutations

PAHdb - Human phenylalanine hydroxylase (PAH) mutation db

PAX6 mutation - Human PAX6 mutation db

Prion - Prion and prion disease web site

RAG1base - Human RAG1 mutation db

RAG2base - Human RAG2 mutation db

RB1base - Human retinoblastoma-associated protein (RB) mutation db

RetNet - Retinal Information Network

Retina International Scientific Newsletter - Information on Retinal genes, proteins and diseases

TSC - TSC (TSC1/TSC2) variation db

TSC2 - Cardiff-Rotterdam Tuberous Sclerosis (TS) db (Tuberin; TSC2)

TGDB - Tumor gene db

VMD2 mutation - Human VMD2 mutation db

vWF mutation - Human von Willebrand factor (vWF) mutation db

WRN - Human WRN mutation db (Warner disease)

WT1 mutation - Human WT1 mutation db

X-ALD mutation - Human ABCD1 mutation db

COSMIC
ICGC
KMDB/MutationView： 人疾病基因的突变数据库

KMDB/MutationView是一个使用图表表现人类疾病引起基因的突变数据的数据库，它当前的版本是由的9个不同疾病种类的附属数据库组成，分别是眼睛，心，耳朵，大脑，癌症，综合症，自身免疫性，肌肉和血液。KMDB/MutationView收录了涉及87种不同的疾病的97种基因的突变数据并且可通过http://mutview.dmb.med.keio.ac.jp访问。

SCAN:  SNP and CNV Annotation Database    网址：http://www.scandb.org/newinterface/about.html
物种为人类（hg18/hg19)里面可以根据基因的位置，得到相应的SNP等等。
SNPnexus：http://snp-nexus.org/citation.html
类似SCAN.



其他数据库参考：http://emuch.net/html/201303/5561978.html