Links from Gene
Items: 1 to 20 of 15991
1.
rs1491570001 has merged into rs59379339 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 2:176278052
(GRCh38)
2:177142780
(GRCh37)
- Canonical SPDI:
- NC_000002.12:176278041:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:176278041:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:176278041:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:176278041:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:176278041:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:176278041:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:176278041:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:176278041:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:176278041:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:176278041:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:176278041:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:176278041:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:176278041:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:176278041:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:176278041:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:176278041:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:176278041:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:176278041:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:176278041:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:176278041:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:176278041:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:176278041:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:176278041:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:176278041:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:176278041:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:176278041:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- MTX2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTT=0./0
(
ALFA)
-=0.000083/22
(TOPMED)
- HGVS:
NC_000002.12:g.176278052_176278068del, NC_000002.12:g.176278053_176278068del, NC_000002.12:g.176278055_176278068del, NC_000002.12:g.176278056_176278068del, NC_000002.12:g.176278057_176278068del, NC_000002.12:g.176278058_176278068del, NC_000002.12:g.176278059_176278068del, NC_000002.12:g.176278060_176278068del, NC_000002.12:g.176278061_176278068del, NC_000002.12:g.176278062_176278068del, NC_000002.12:g.176278063_176278068del, NC_000002.12:g.176278064_176278068del, NC_000002.12:g.176278065_176278068del, NC_000002.12:g.176278066_176278068del, NC_000002.12:g.176278067_176278068del, NC_000002.12:g.176278068del, NC_000002.12:g.176278068dup, NC_000002.12:g.176278067_176278068dup, NC_000002.12:g.176278066_176278068dup, NC_000002.12:g.176278065_176278068dup, NC_000002.12:g.176278064_176278068dup, NC_000002.12:g.176278063_176278068dup, NC_000002.12:g.176278062_176278068dup, NC_000002.12:g.176278061_176278068dup, NC_000002.12:g.176278057_176278068dup, NC_000002.12:g.176278068_176278069insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.177142780_177142796del, NC_000002.11:g.177142781_177142796del, NC_000002.11:g.177142783_177142796del, NC_000002.11:g.177142784_177142796del, NC_000002.11:g.177142785_177142796del, NC_000002.11:g.177142786_177142796del, NC_000002.11:g.177142787_177142796del, NC_000002.11:g.177142788_177142796del, NC_000002.11:g.177142789_177142796del, NC_000002.11:g.177142790_177142796del, NC_000002.11:g.177142791_177142796del, NC_000002.11:g.177142792_177142796del, NC_000002.11:g.177142793_177142796del, NC_000002.11:g.177142794_177142796del, NC_000002.11:g.177142795_177142796del, NC_000002.11:g.177142796del, NC_000002.11:g.177142796dup, NC_000002.11:g.177142795_177142796dup, NC_000002.11:g.177142794_177142796dup, NC_000002.11:g.177142793_177142796dup, NC_000002.11:g.177142792_177142796dup, NC_000002.11:g.177142791_177142796dup, NC_000002.11:g.177142790_177142796dup, NC_000002.11:g.177142789_177142796dup, NC_000002.11:g.177142785_177142796dup, NC_000002.11:g.177142796_177142797insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
3.
rs1491551709 has merged into rs750682515 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 2:176294288
(GRCh38)
2:177159016
(GRCh37)
- Canonical SPDI:
- NC_000002.12:176294278:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000002.12:176294278:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:176294278:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:176294278:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:176294278:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:176294278:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:176294278:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:176294278:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:176294278:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:176294278:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:176294278:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:176294278:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:176294278:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:176294278:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:176294278:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:176294278:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:176294278:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:176294278:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:176294278:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:176294278:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:176294278:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:176294278:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- MTX2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTT=0./0
(
ALFA)
-=0.04411/170
(ALSPAC)
- HGVS:
NC_000002.12:g.176294288_176294299del, NC_000002.12:g.176294289_176294299del, NC_000002.12:g.176294290_176294299del, NC_000002.12:g.176294291_176294299del, NC_000002.12:g.176294292_176294299del, NC_000002.12:g.176294293_176294299del, NC_000002.12:g.176294294_176294299del, NC_000002.12:g.176294295_176294299del, NC_000002.12:g.176294296_176294299del, NC_000002.12:g.176294297_176294299del, NC_000002.12:g.176294298_176294299del, NC_000002.12:g.176294299del, NC_000002.12:g.176294299dup, NC_000002.12:g.176294298_176294299dup, NC_000002.12:g.176294297_176294299dup, NC_000002.12:g.176294296_176294299dup, NC_000002.12:g.176294295_176294299dup, NC_000002.12:g.176294284_176294299dup, NC_000002.12:g.176294283_176294299dup, NC_000002.12:g.176294299_176294300insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.176294299_176294300insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.176294299_176294300insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.177159016_177159027del, NC_000002.11:g.177159017_177159027del, NC_000002.11:g.177159018_177159027del, NC_000002.11:g.177159019_177159027del, NC_000002.11:g.177159020_177159027del, NC_000002.11:g.177159021_177159027del, NC_000002.11:g.177159022_177159027del, NC_000002.11:g.177159023_177159027del, NC_000002.11:g.177159024_177159027del, NC_000002.11:g.177159025_177159027del, NC_000002.11:g.177159026_177159027del, NC_000002.11:g.177159027del, NC_000002.11:g.177159027dup, NC_000002.11:g.177159026_177159027dup, NC_000002.11:g.177159025_177159027dup, NC_000002.11:g.177159024_177159027dup, NC_000002.11:g.177159023_177159027dup, NC_000002.11:g.177159012_177159027dup, NC_000002.11:g.177159011_177159027dup, NC_000002.11:g.177159027_177159028insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.177159027_177159028insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.177159027_177159028insTTTTTTTTTTTTTTTTTTTTTTTTTTT
4.
rs1491511030 has merged into rs71004264 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 2:176282138
(GRCh38)
2:177146866
(GRCh37)
- Canonical SPDI:
- NC_000002.12:176282126:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:176282126:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:176282126:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:176282126:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:176282126:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:176282126:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:176282126:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:176282126:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:176282126:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:176282126:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:176282126:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:176282126:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:176282126:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:176282126:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:176282126:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:176282126:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:176282126:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:176282126:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:176282126:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:176282126:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:176282126:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:176282126:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:176282126:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:176282126:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:176282126:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:176282126:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:176282126:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:176282126:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:176282126:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:176282126:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:176282126:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:176282126:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:176282126:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:176282126:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:176282126:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:176282126:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- MTX2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000002.12:g.176282138_176282154del, NC_000002.12:g.176282139_176282154del, NC_000002.12:g.176282141_176282154del, NC_000002.12:g.176282142_176282154del, NC_000002.12:g.176282143_176282154del, NC_000002.12:g.176282144_176282154del, NC_000002.12:g.176282145_176282154del, NC_000002.12:g.176282146_176282154del, NC_000002.12:g.176282147_176282154del, NC_000002.12:g.176282148_176282154del, NC_000002.12:g.176282149_176282154del, NC_000002.12:g.176282150_176282154del, NC_000002.12:g.176282151_176282154del, NC_000002.12:g.176282152_176282154del, NC_000002.12:g.176282153_176282154del, NC_000002.12:g.176282154del, NC_000002.12:g.176282154dup, NC_000002.12:g.176282153_176282154dup, NC_000002.12:g.176282152_176282154dup, NC_000002.12:g.176282151_176282154dup, NC_000002.12:g.176282150_176282154dup, NC_000002.12:g.176282149_176282154dup, NC_000002.12:g.176282148_176282154dup, NC_000002.12:g.176282147_176282154dup, NC_000002.12:g.176282146_176282154dup, NC_000002.12:g.176282145_176282154dup, NC_000002.12:g.176282144_176282154dup, NC_000002.12:g.176282138_176282154dup, NC_000002.12:g.176282133_176282154dup, NC_000002.12:g.176282132_176282154dup, NC_000002.12:g.176282131_176282154dup, NC_000002.12:g.176282128_176282154dup, NC_000002.12:g.176282127_176282154dup, NC_000002.12:g.176282154_176282155insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.176282154_176282155insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.176282154_176282155insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.177146866_177146882del, NC_000002.11:g.177146867_177146882del, NC_000002.11:g.177146869_177146882del, NC_000002.11:g.177146870_177146882del, NC_000002.11:g.177146871_177146882del, NC_000002.11:g.177146872_177146882del, NC_000002.11:g.177146873_177146882del, NC_000002.11:g.177146874_177146882del, NC_000002.11:g.177146875_177146882del, NC_000002.11:g.177146876_177146882del, NC_000002.11:g.177146877_177146882del, NC_000002.11:g.177146878_177146882del, NC_000002.11:g.177146879_177146882del, NC_000002.11:g.177146880_177146882del, NC_000002.11:g.177146881_177146882del, NC_000002.11:g.177146882del, NC_000002.11:g.177146882dup, NC_000002.11:g.177146881_177146882dup, NC_000002.11:g.177146880_177146882dup, NC_000002.11:g.177146879_177146882dup, NC_000002.11:g.177146878_177146882dup, NC_000002.11:g.177146877_177146882dup, NC_000002.11:g.177146876_177146882dup, NC_000002.11:g.177146875_177146882dup, NC_000002.11:g.177146874_177146882dup, NC_000002.11:g.177146873_177146882dup, NC_000002.11:g.177146872_177146882dup, NC_000002.11:g.177146866_177146882dup, NC_000002.11:g.177146861_177146882dup, NC_000002.11:g.177146860_177146882dup, NC_000002.11:g.177146859_177146882dup, NC_000002.11:g.177146856_177146882dup, NC_000002.11:g.177146855_177146882dup, NC_000002.11:g.177146882_177146883insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.177146882_177146883insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.177146882_177146883insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
5.
rs1491474662 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 2:176298238
(GRCh38)
2:177162967
(GRCh37)
- Canonical SPDI:
- NC_000002.12:176298238:A:AA
- Gene:
- MTX2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AA=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
6.
rs1491452098 has merged into rs959350113 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-,TT,TTT
[Show Flanks]
- Chromosome:
- 2:176298116
(GRCh38)
2:177162844
(GRCh37)
- Canonical SPDI:
- NC_000002.12:176298115:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:176298115:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:176298115:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT
- Gene:
- MTX2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTT=0./0
(
ALFA)
T=0.00006/1
(TOMMO)
-=0.00167/1
(NorthernSweden)
- HGVS:
7.
rs1491397852 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 2:176298240
(GRCh38)
2:177162968
(GRCh37)
- Canonical SPDI:
- NC_000002.12:176298237:CACA:CA
- Gene:
- MTX2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CACA=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000011/3
(TOPMED)
-=0.000312/2
(1000Genomes)
- HGVS:
9.
rs1491225889 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 2:176278041
(GRCh38)
2:177142769
(GRCh37)
- Canonical SPDI:
- NC_000002.12:176278040:GT:
- Gene:
- MTX2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000437/52
(GnomAD)
- HGVS:
10.
rs1491005919 has merged into rs61139522 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTT>-,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 2:176285431
(GRCh38)
2:177150159
(GRCh37)
- Canonical SPDI:
- NC_000002.12:176285418:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:176285418:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:176285418:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:176285418:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:176285418:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:176285418:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:176285418:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:176285418:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:176285418:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:176285418:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:176285418:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:176285418:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:176285418:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:176285418:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:176285418:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:176285418:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- MTX2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTT=0./0
(
ALFA)
- HGVS:
NC_000002.12:g.176285431_176285437del, NC_000002.12:g.176285435_176285437del, NC_000002.12:g.176285436_176285437del, NC_000002.12:g.176285437del, NC_000002.12:g.176285437dup, NC_000002.12:g.176285436_176285437dup, NC_000002.12:g.176285435_176285437dup, NC_000002.12:g.176285434_176285437dup, NC_000002.12:g.176285433_176285437dup, NC_000002.12:g.176285432_176285437dup, NC_000002.12:g.176285431_176285437dup, NC_000002.12:g.176285430_176285437dup, NC_000002.12:g.176285419_176285437dup, NC_000002.12:g.176285437_176285438insTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.176285437_176285438insTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.176285437_176285438insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.177150159_177150165del, NC_000002.11:g.177150163_177150165del, NC_000002.11:g.177150164_177150165del, NC_000002.11:g.177150165del, NC_000002.11:g.177150165dup, NC_000002.11:g.177150164_177150165dup, NC_000002.11:g.177150163_177150165dup, NC_000002.11:g.177150162_177150165dup, NC_000002.11:g.177150161_177150165dup, NC_000002.11:g.177150160_177150165dup, NC_000002.11:g.177150159_177150165dup, NC_000002.11:g.177150158_177150165dup, NC_000002.11:g.177150147_177150165dup, NC_000002.11:g.177150165_177150166insTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.177150165_177150166insTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.177150165_177150166insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
11.
rs1490978772 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 2:176307407
(GRCh38)
2:177172135
(GRCh37)
- Canonical SPDI:
- NC_000002.12:176307406:A:T
- Gene:
- MTX2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
12.
rs1490950350 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:176321650
(GRCh38)
2:177186378
(GRCh37)
- Canonical SPDI:
- NC_000002.12:176321649:C:T
- Gene:
- MTX2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
13.
rs1490925502 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 2:176308249
(GRCh38)
2:177172977
(GRCh37)
- Canonical SPDI:
- NC_000002.12:176308248:C:A,NC_000002.12:176308248:C:T
- Gene:
- MTX2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0./0
(GnomAD)
- HGVS:
14.
rs1490896178 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:176276792
(GRCh38)
2:177141520
(GRCh37)
- Canonical SPDI:
- NC_000002.12:176276791:T:C
- Gene:
- MTX2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
C=0.000038/10
(TOPMED)
- HGVS:
17.
rs1490724660 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 2:176300240
(GRCh38)
2:177164968
(GRCh37)
- Canonical SPDI:
- NC_000002.12:176300239:T:G
- Gene:
- MTX2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000011/3
(TOPMED)
- HGVS:
18.
rs1490716973 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:176314755
(GRCh38)
2:177179483
(GRCh37)
- Canonical SPDI:
- NC_000002.12:176314754:C:T
- Gene:
- MTX2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
19.
rs1490683701 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AATC>-
[Show Flanks]
- Chromosome:
- 2:176304085
(GRCh38)
2:177168813
(GRCh37)
- Canonical SPDI:
- NC_000002.12:176304080:AATCAATC:AATC
- Gene:
- MTX2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AATCAATC=0.000054/1
(
ALFA)
-=0.000019/5
(TOPMED)
-=0.000035/1
(TOMMO)
-=0.000036/5
(GnomAD)
-=0.000223/1
(Estonian)
- HGVS:
20.
rs1490662115 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:176316253
(GRCh38)
2:177180981
(GRCh37)
- Canonical SPDI:
- NC_000002.12:176316252:A:G
- Gene:
- MTX2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS: