SNP Links for Gene (Select 5868) - SNP

Links from Gene

Items: 1 to 20 of 1000

<< First< Prev

Page of 50

Next >Last >>

Select item 14915804671.

rs1491580467 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,T [Show Flanks]
Chromosome:: 3:19963365 (GRCh38)
3:20004858 (GRCh37)
Canonical SPDI:: NC_000003.12:19963365::A,NC_000003.12:19963365::T
Gene:: RAB5A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000076/1 (TOMMO)
HGVS:: NC_000003.12:g.19963365_19963366insA, NC_000003.12:g.19963365_19963366insT, NC_000003.11:g.20004857_20004858insA, NC_000003.11:g.20004857_20004858insT

Select item 14915440672.

rs1491544067 has merged into rs386396075 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT,TTT,TTTT,TTTTT,TTTTTGTTTTTTTTTTTTTTTTT,TTTTTT,TTTTTTT,TTTTTTTGTTTTTTTTTTTTTTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 3:19969046 (GRCh38)
3:20010538 (GRCh37)
Canonical SPDI:: NC_000003.12:19969045:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:19969045:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:19969045:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:19969045:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:19969045:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:19969045:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTT,NC_000003.12:19969045:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:19969045:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:19969045:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTT,NC_000003.12:19969045:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:19969045:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:19969045:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:19969045:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:19969045:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:19969045:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:19969045:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:19969045:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:19969045:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:19969045:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:19969045:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:19969045:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:19969045:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:19969045:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:19969045:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:19969045:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:19969045:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:19969045:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:19969045:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:19969045:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:19969045:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:19969045:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:19969045:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:19969045:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:19969045:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: RAB5A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTT=0./0 (ALFA)
TTT=0.00111/2 (Korea1K)
HGVS:: NC_000003.12:g.19969061del, NC_000003.12:g.19969061dup, NC_000003.12:g.19969060_19969061dup, NC_000003.12:g.19969059_19969061dup, NC_000003.12:g.19969058_19969061dup, NC_000003.12:g.19969046_19969061T[20]GTTTTTTTTTTTTTTTTT[1], NC_000003.12:g.19969057_19969061dup, NC_000003.12:g.19969056_19969061dup, NC_000003.12:g.19969046_19969061T[22]GTTTTTTTTTTTTTTTTTTT[1], NC_000003.12:g.19969055_19969061dup, NC_000003.12:g.19969054_19969061dup, NC_000003.12:g.19969053_19969061dup, NC_000003.12:g.19969052_19969061dup, NC_000003.12:g.19969051_19969061dup, NC_000003.12:g.19969050_19969061dup, NC_000003.12:g.19969049_19969061dup, NC_000003.12:g.19969048_19969061dup, NC_000003.12:g.19969046_19969061dup, NC_000003.12:g.19969061_19969062insTTTTTTTTTTTTTTTTT, NC_000003.12:g.19969061_19969062insTTTTTTTTTTTTTTTTTT, NC_000003.12:g.19969061_19969062insTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.19969061_19969062insTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.19969061_19969062insTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.19969061_19969062insTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.19969061_19969062insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.19969061_19969062insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.19969061_19969062insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.19969061_19969062insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.19969061_19969062insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.19969061_19969062insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.19969061_19969062insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.19969061_19969062insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.19969061_19969062insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.19969061_19969062insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.20010553del, NC_000003.11:g.20010553dup, NC_000003.11:g.20010552_20010553dup, NC_000003.11:g.20010551_20010553dup, NC_000003.11:g.20010550_20010553dup, NC_000003.11:g.20010538_20010553T[20]GTTTTTTTTTTTTTTTTT[1], NC_000003.11:g.20010549_20010553dup, NC_000003.11:g.20010548_20010553dup, NC_000003.11:g.20010538_20010553T[22]GTTTTTTTTTTTTTTTTTTT[1], NC_000003.11:g.20010547_20010553dup, NC_000003.11:g.20010546_20010553dup, NC_000003.11:g.20010545_20010553dup, NC_000003.11:g.20010544_20010553dup, NC_000003.11:g.20010543_20010553dup, NC_000003.11:g.20010542_20010553dup, NC_000003.11:g.20010541_20010553dup, NC_000003.11:g.20010540_20010553dup, NC_000003.11:g.20010538_20010553dup, NC_000003.11:g.20010553_20010554insTTTTTTTTTTTTTTTTT, NC_000003.11:g.20010553_20010554insTTTTTTTTTTTTTTTTTT, NC_000003.11:g.20010553_20010554insTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.20010553_20010554insTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.20010553_20010554insTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.20010553_20010554insTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.20010553_20010554insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.20010553_20010554insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.20010553_20010554insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.20010553_20010554insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.20010553_20010554insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.20010553_20010554insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.20010553_20010554insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.20010553_20010554insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.20010553_20010554insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.20010553_20010554insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14915352783.

rs1491535278 [Homo sapiens]

Variant type:: INS
Alleles:: ->TTTTTTTTTG [Show Flanks]
Chromosome:: 3:19959645 (GRCh38)
3:20001138 (GRCh37)
Canonical SPDI:: NC_000003.12:19959645::TTTTTTTTTG
Gene:: RAB5A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: TTTTTTTTTG=0.00001/1 (GnomAD)
HGVS:: NC_000003.12:g.19959645_19959646insTTTTTTTTTG, NC_000003.11:g.20001137_20001138insTTTTTTTTTG

Select item 14914924404.

rs1491492440 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 3:19969043 (GRCh38)
3:20010535 (GRCh37)
Canonical SPDI:: NC_000003.12:19969042:TG:
Gene:: RAB5A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00027/19 (GnomAD)
-=0.00037/6 (TOMMO)
HGVS:: NC_000003.12:g.19969043_19969044del, NC_000003.11:g.20010535_20010536del

Select item 14914782795.

rs1491478279 [Homo sapiens]

Variant type:: DEL
Alleles:: GG>- [Show Flanks]
Chromosome:: 3:19969030 (GRCh38)
3:20010522 (GRCh37)
Canonical SPDI:: NC_000003.12:19969029:GG:
Gene:: RAB5A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000123/2 (ALFA)
-=0.000321/34 (GnomAD)
-=0.007265/28 (ALSPAC)
-=0.010248/38 (TWINSUK)
HGVS:: NC_000003.12:g.19969030_19969031del, NC_000003.11:g.20010522_20010523del

Select item 14914226556.

rs1491422655 has merged into rs61250458 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 3:19951712 (GRCh38)
3:19993204 (GRCh37)
Canonical SPDI:: NC_000003.12:19951701:TTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000003.12:19951701:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:19951701:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:19951701:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:19951701:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:19951701:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:19951701:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:19951701:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:19951701:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:19951701:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:19951701:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:19951701:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:19951701:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:19951701:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:19951701:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:19951701:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:19951701:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:19951701:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:19951701:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:19951701:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:19951701:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:19951701:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:19951701:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:19951701:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:19951701:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:19951701:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:19951701:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:19951701:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:19951701:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:19951701:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:19951701:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: RAB5A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000003.12:g.19951712_19951719del, NC_000003.12:g.19951715_19951719del, NC_000003.12:g.19951716_19951719del, NC_000003.12:g.19951717_19951719del, NC_000003.12:g.19951718_19951719del, NC_000003.12:g.19951719del, NC_000003.12:g.19951719dup, NC_000003.12:g.19951718_19951719dup, NC_000003.12:g.19951717_19951719dup, NC_000003.12:g.19951716_19951719dup, NC_000003.12:g.19951715_19951719dup, NC_000003.12:g.19951714_19951719dup, NC_000003.12:g.19951713_19951719dup, NC_000003.12:g.19951712_19951719dup, NC_000003.12:g.19951711_19951719dup, NC_000003.12:g.19951710_19951719dup, NC_000003.12:g.19951709_19951719dup, NC_000003.12:g.19951708_19951719dup, NC_000003.12:g.19951707_19951719dup, NC_000003.12:g.19951706_19951719dup, NC_000003.12:g.19951705_19951719dup, NC_000003.12:g.19951704_19951719dup, NC_000003.12:g.19951703_19951719dup, NC_000003.12:g.19951702_19951719dup, NC_000003.12:g.19951719_19951720insTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.19951719_19951720insTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.19951719_19951720insTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.19951719_19951720insTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.19951719_19951720insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.19951719_19951720insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.19951719_19951720insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.19993204_19993211del, NC_000003.11:g.19993207_19993211del, NC_000003.11:g.19993208_19993211del, NC_000003.11:g.19993209_19993211del, NC_000003.11:g.19993210_19993211del, NC_000003.11:g.19993211del, NC_000003.11:g.19993211dup, NC_000003.11:g.19993210_19993211dup, NC_000003.11:g.19993209_19993211dup, NC_000003.11:g.19993208_19993211dup, NC_000003.11:g.19993207_19993211dup, NC_000003.11:g.19993206_19993211dup, NC_000003.11:g.19993205_19993211dup, NC_000003.11:g.19993204_19993211dup, NC_000003.11:g.19993203_19993211dup, NC_000003.11:g.19993202_19993211dup, NC_000003.11:g.19993201_19993211dup, NC_000003.11:g.19993200_19993211dup, NC_000003.11:g.19993199_19993211dup, NC_000003.11:g.19993198_19993211dup, NC_000003.11:g.19993197_19993211dup, NC_000003.11:g.19993196_19993211dup, NC_000003.11:g.19993195_19993211dup, NC_000003.11:g.19993194_19993211dup, NC_000003.11:g.19993211_19993212insTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.19993211_19993212insTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.19993211_19993212insTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.19993211_19993212insTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.19993211_19993212insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.19993211_19993212insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.19993211_19993212insTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14914159217.

rs1491415921 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 3:19985514 (GRCh38)
3:20027006 (GRCh37)
Canonical SPDI:: NC_000003.12:19985513:TA:
Gene:: RAB5A (Varview), PP2D1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,frameshift_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency
MAF:: -=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.19985514_19985515del, NC_000003.11:g.20027006_20027007del, NM_001252657.2:c.1758_1759del, NM_001252657.1:c.1758_1759del, NP_001239586.1:p.Lys587fs

Select item 14913934408.

rs1491393440 has merged into rs61222002 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAAAAA [Show Flanks]
Chromosome:: 3:19957743 (GRCh38)
3:19999235 (GRCh37)
Canonical SPDI:: NC_000003.12:19957730:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:19957730:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:19957730:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:19957730:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:19957730:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:19957730:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:19957730:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
Gene:: RAB5A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
A=0.15/6 (GENOME_DK)
A=0.33/152 (NorthernSweden)
HGVS:: NC_000003.12:g.19957743_19957745del, NC_000003.12:g.19957744_19957745del, NC_000003.12:g.19957745del, NC_000003.12:g.19957745dup, NC_000003.12:g.19957744_19957745dup, NC_000003.12:g.19957743_19957745dup, NC_000003.12:g.19957739_19957745dup, NC_000003.11:g.19999235_19999237del, NC_000003.11:g.19999236_19999237del, NC_000003.11:g.19999237del, NC_000003.11:g.19999237dup, NC_000003.11:g.19999236_19999237dup, NC_000003.11:g.19999235_19999237dup, NC_000003.11:g.19999231_19999237dup

Select item 14913478139.

rs1491347813 has merged into rs57627468 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA [Show Flanks]
Chromosome:: 3:19957502 (GRCh38)
3:19998994 (GRCh37)
Canonical SPDI:: NC_000003.12:19957490:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:19957490:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:19957490:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:19957490:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:19957490:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:19957490:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:19957490:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:19957490:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
Gene:: RAB5A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
A=0.225/9 (GENOME_DK)
A=0.4065/2036 (1000Genomes)
HGVS:: NC_000003.12:g.19957502_19957506del, NC_000003.12:g.19957503_19957506del, NC_000003.12:g.19957504_19957506del, NC_000003.12:g.19957505_19957506del, NC_000003.12:g.19957506del, NC_000003.12:g.19957506dup, NC_000003.12:g.19957505_19957506dup, NC_000003.12:g.19957504_19957506dup, NC_000003.11:g.19998994_19998998del, NC_000003.11:g.19998995_19998998del, NC_000003.11:g.19998996_19998998del, NC_000003.11:g.19998997_19998998del, NC_000003.11:g.19998998del, NC_000003.11:g.19998998dup, NC_000003.11:g.19998997_19998998dup, NC_000003.11:g.19998996_19998998dup

Select item 149134691510.

rs1491346915 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 3:19969045 (GRCh38)
3:20010537 (GRCh37)
Canonical SPDI:: NC_000003.12:19969044:GT:
Gene:: RAB5A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.02234/265 (ALFA)
-=0.04934/2971 (GnomAD)
HGVS:: NC_000003.12:g.19969045_19969046del, NC_000003.11:g.20010537_20010538del

Select item 149128450011.

rs1491284500 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 3:19950615 (GRCh38)
3:19992107 (GRCh37)
Canonical SPDI:: NC_000003.12:19950614:TA:
Gene:: RAB5A (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.19950615_19950616del, NC_000003.11:g.19992107_19992108del

Select item 149125785912.

rs1491257859 [Homo sapiens]

Variant type:: DEL
Alleles:: GG>- [Show Flanks]
Chromosome:: 3:19969044 (GRCh38)
3:20010536 (GRCh37)
Canonical SPDI:: NC_000003.12:19969043:GG:
Gene:: RAB5A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00666/111 (TOMMO)
-=0.09854/6308 (GnomAD)
-=0.17462/673 (ALSPAC)
-=0.20227/750 (TWINSUK)
-=0.28/154 (NorthernSweden)
HGVS:: NC_000003.12:g.19969044_19969045del, NC_000003.11:g.20010536_20010537del

Select item 149123342913.

rs1491233429 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 3:19959645 (GRCh38)
3:20001137 (GRCh37)
Canonical SPDI:: NC_000003.12:19959644:TG:
Gene:: RAB5A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00177/21 (ALFA)
HGVS:: NC_000003.12:g.19959645_19959646del, NC_000003.11:g.20001137_20001138del

Select item 149123111314.

rs1491231113 has merged into rs11383693 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 3:19953424 (GRCh38)
3:19994916 (GRCh37)
Canonical SPDI:: NC_000003.12:19953411:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:19953411:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:19953411:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:19953411:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:19953411:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:19953411:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:19953411:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:19953411:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:19953411:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:19953411:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:19953411:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: RAB5A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000003.12:g.19953424_19953428del, NC_000003.12:g.19953426_19953428del, NC_000003.12:g.19953427_19953428del, NC_000003.12:g.19953428del, NC_000003.12:g.19953428dup, NC_000003.12:g.19953427_19953428dup, NC_000003.12:g.19953426_19953428dup, NC_000003.12:g.19953425_19953428dup, NC_000003.12:g.19953424_19953428dup, NC_000003.12:g.19953423_19953428dup, NC_000003.12:g.19953419_19953428dup, NC_000003.11:g.19994916_19994920del, NC_000003.11:g.19994918_19994920del, NC_000003.11:g.19994919_19994920del, NC_000003.11:g.19994920del, NC_000003.11:g.19994920dup, NC_000003.11:g.19994919_19994920dup, NC_000003.11:g.19994918_19994920dup, NC_000003.11:g.19994917_19994920dup, NC_000003.11:g.19994916_19994920dup, NC_000003.11:g.19994915_19994920dup, NC_000003.11:g.19994911_19994920dup

Select item 149115248215.

rs1491152482 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 3:19953412 (GRCh38)
3:19994905 (GRCh37)
Canonical SPDI:: NC_000003.12:19953412::C
Gene:: RAB5A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000003.12:g.19953412_19953413insC, NC_000003.11:g.19994904_19994905insC

Select item 149112010116.

rs1491120101 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 3:19985514 (GRCh38)
3:20027007 (GRCh37)
Canonical SPDI:: NC_000003.12:19985514:A:AA
Gene:: RAB5A (Varview), PP2D1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,downstream_transcript_variant,500B_downstream_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.19985515dup, NC_000003.11:g.20027007dup, NM_001252657.2:c.1758dup, NM_001252657.1:c.1758dup, NP_001239586.1:p.Lys587Ter

Select item 149111965417.

rs1491119654 [Homo sapiens]

Variant type:: DEL
Alleles:: CG>- [Show Flanks]
Chromosome:: 3:19963378 (GRCh38)
3:20004870 (GRCh37)
Canonical SPDI:: NC_000003.12:19963377:CG:
Gene:: RAB5A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000003.12:g.19963378_19963379del, NC_000003.11:g.20004870_20004871del

Select item 149110763518.

rs1491107635 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 3:19953411 (GRCh38)
3:19994903 (GRCh37)
Canonical SPDI:: NC_000003.12:19953410:CT:
Gene:: RAB5A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.19953411_19953412del, NC_000003.11:g.19994903_19994904del

Select item 149101502119.

rs1491015021 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 3:19983364 (GRCh38)
3:20024856 (GRCh37)
Canonical SPDI:: NC_000003.12:19983362:AGA:A
Gene:: RAB5A (Varview), PP2D1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.19983364_19983365del, NC_000003.11:g.20024856_20024857del

Select item 149096722120.

rs1490967221 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:19970219 (GRCh38)
3:20011711 (GRCh37)
Canonical SPDI:: NC_000003.12:19970218:A:C
Gene:: RAB5A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000019/5 (TOPMED)
HGVS:: NC_000003.12:g.19970219A>C, NC_000003.11:g.20011711A>C

<< First< Prev

Page of 50

Next >Last >>

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 1000

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity