Links from Gene
Items: 1 to 20 of 2624
1.
rs1491315520 has merged into rs147356894 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GG>-,G,GGG,GGGG
[Show Flanks]
- Chromosome:
- 12:6920381
(GRCh38)
12:7029544
(GRCh37)
- Canonical SPDI:
- NC_000012.12:6920372:GGGGGGGGGG:GGGGGGGG,NC_000012.12:6920372:GGGGGGGGGG:GGGGGGGGG,NC_000012.12:6920372:GGGGGGGGGG:GGGGGGGGGGG,NC_000012.12:6920372:GGGGGGGGGG:GGGGGGGGGGGG
- Gene:
- ENO2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGGGGGGGGGGG=0./0
(
ALFA)
-=0.16667/100
(NorthernSweden)
-=0.44669/2237
(1000Genomes)
- HGVS:
NC_000012.12:g.6920381_6920382del, NC_000012.12:g.6920382del, NC_000012.12:g.6920382dup, NC_000012.12:g.6920381_6920382dup, NW_003871083.2:g.121964_121965del, NW_003871083.2:g.121965del, NW_003871083.2:g.121965dup, NW_003871083.2:g.121964_121965dup, NG_008047.1:g.919_920del, NG_008047.1:g.920del, NG_008047.1:g.920dup, NG_008047.1:g.919_920dup, NC_000012.11:g.7029544_7029545del, NC_000012.11:g.7029545del, NC_000012.11:g.7029545dup, NC_000012.11:g.7029544_7029545dup
2.
rs1491227046 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 12:6920373
(GRCh38)
12:7029537
(GRCh37)
- Canonical SPDI:
- NC_000012.12:6920373::T
- Gene:
- ENO2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
3.
rs1490996306 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 12:6913751
(GRCh38)
12:7022915
(GRCh37)
- Canonical SPDI:
- NC_000012.12:6913750:A:C
- Gene:
- ENO2 (Varview), LRRC23 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
4.
rs1490928184 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GGGAGCCGCAGCCGCCGCCGCCA>-
[Show Flanks]
- Chromosome:
- 12:6914555
(GRCh38)
12:7023719
(GRCh37)
- Canonical SPDI:
- NC_000012.12:6914554:GGGAGCCGCAGCCGCCGCCGCCA:
- Gene:
- ENO2 (Varview), LRRC23 (Varview)
- Functional Consequence:
- downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000015/4
(TOPMED)
- HGVS:
5.
rs1490559656 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:6920248
(GRCh38)
12:7029411
(GRCh37)
- Canonical SPDI:
- NC_000012.12:6920247:G:A
- Gene:
- ENO2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
- HGVS:
6.
rs1490505068 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTTTTTTTTTTTTTTT>-
[Show Flanks]
- Chromosome:
- 12:6913555
(GRCh38)
12:7022719
(GRCh37)
- Canonical SPDI:
- NC_000012.12:6913551:TTTGTTTTTTTTTTTTTTT:TTT
- Gene:
- ENO2 (Varview), LRRC23 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
TTT=0./0
(
ALFA)
-=0.00005/4
(GnomAD)
- HGVS:
7.
rs1490188180 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:6912804
(GRCh38)
12:7021968
(GRCh37)
- Canonical SPDI:
- NC_000012.12:6912803:T:C
- Gene:
- ENO2 (Varview), LRRC23 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
NC_000012.12:g.6912804T>C, NC_000012.11:g.7021968T>C, NW_003871083.2:g.114388T>C, NM_201650.3:c.833T>C, NM_201650.2:c.833T>C, NM_001135217.2:c.833T>C, NM_001135217.1:c.833T>C, NM_181613.2:c.833T>C, NM_181613.1:c.833T>C, NP_964013.1:p.Leu278Pro, NP_001128689.1:p.Leu278Pro
8.
rs1490086499 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 12:6920613
(GRCh38)
12:7029776
(GRCh37)
- Canonical SPDI:
- NC_000012.12:6920612:T:G
- Gene:
- ENO2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
9.
rs1490071017 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:6919644
(GRCh38)
12:7028808
(GRCh37)
- Canonical SPDI:
- NC_000012.12:6919643:C:T
- Gene:
- ENO2 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
10.
rs1490001514 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:6913357
(GRCh38)
12:7022521
(GRCh37)
- Canonical SPDI:
- NC_000012.12:6913356:G:A
- Gene:
- ENO2 (Varview), LRRC23 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000071/1
(TOMMO)
- HGVS:
11.
rs1489367336 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:6919023
(GRCh38)
12:7028187
(GRCh37)
- Canonical SPDI:
- NC_000012.12:6919022:G:A
- Gene:
- ENO2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000015/4
(TOPMED)
A=0.000031/2
(GnomAD)
- HGVS:
12.
rs1488687111 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:6915084
(GRCh38)
12:7024248
(GRCh37)
- Canonical SPDI:
- NC_000012.12:6915083:C:T
- Gene:
- ENO2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
13.
rs1488424419 has merged into rs59941048 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA
[Show Flanks]
- Chromosome:
- 12:6921401
(GRCh38)
12:7030564
(GRCh37)
- Canonical SPDI:
- NC_000012.12:6921390:AAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000012.12:6921390:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:6921390:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:6921390:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:6921390:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:6921390:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:6921390:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:6921390:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
- Gene:
- ENO2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.00144/7
(1000Genomes)
A=0.15/6
(GENOME_DK)
- HGVS:
NC_000012.12:g.6921401_6921405del, NC_000012.12:g.6921402_6921405del, NC_000012.12:g.6921403_6921405del, NC_000012.12:g.6921404_6921405del, NC_000012.12:g.6921405del, NC_000012.12:g.6921405dup, NC_000012.12:g.6921404_6921405dup, NC_000012.12:g.6921403_6921405dup, NW_003871083.2:g.122984_122988del, NW_003871083.2:g.122985_122988del, NW_003871083.2:g.122986_122988del, NW_003871083.2:g.122987_122988del, NW_003871083.2:g.122988del, NW_003871083.2:g.122988dup, NW_003871083.2:g.122987_122988dup, NW_003871083.2:g.122986_122988dup, NG_008047.1:g.1939_1943del, NG_008047.1:g.1940_1943del, NG_008047.1:g.1941_1943del, NG_008047.1:g.1942_1943del, NG_008047.1:g.1943del, NG_008047.1:g.1943dup, NG_008047.1:g.1942_1943dup, NG_008047.1:g.1941_1943dup, NC_000012.11:g.7030564_7030568del, NC_000012.11:g.7030565_7030568del, NC_000012.11:g.7030566_7030568del, NC_000012.11:g.7030567_7030568del, NC_000012.11:g.7030568del, NC_000012.11:g.7030568dup, NC_000012.11:g.7030567_7030568dup, NC_000012.11:g.7030566_7030568dup
14.
rs1488329203 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:6919838
(GRCh38)
12:7029002
(GRCh37)
- Canonical SPDI:
- NC_000012.12:6919837:G:A
- Gene:
- ENO2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
15.
rs1487494312 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:6917353
(GRCh38)
12:7026517
(GRCh37)
- Canonical SPDI:
- NC_000012.12:6917352:G:A
- Gene:
- ENO2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
- HGVS:
16.
rs1487398599 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:6918348
(GRCh38)
12:7027512
(GRCh37)
- Canonical SPDI:
- NC_000012.12:6918347:A:G
- Gene:
- ENO2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000015/2
(GnomAD)
- HGVS:
18.
rs1486731505 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:6914349
(GRCh38)
12:7023513
(GRCh37)
- Canonical SPDI:
- NC_000012.12:6914348:G:A
- Gene:
- ENO2 (Varview), LRRC23 (Varview)
- Functional Consequence:
- downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000038/10
(TOPMED)
A=0.000319/5
(TOMMO)
A=0.001648/3
(Korea1K)
- HGVS:
19.
rs1486702548 has merged into rs869177982 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 12:6913566
(GRCh38)
12:7022730
(GRCh37)
- Canonical SPDI:
- NC_000012.12:6913555:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000012.12:6913555:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:6913555:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:6913555:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:6913555:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:6913555:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:6913555:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:6913555:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:6913555:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:6913555:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000012.12:6913555:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:6913555:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:6913555:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:6913555:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:6913555:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:6913555:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:6913555:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:6913555:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:6913555:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:6913555:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:6913555:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:6913555:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:6913555:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:6913555:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:6913555:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:6913555:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:6913555:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:6913555:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:6913555:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:6913555:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:6913555:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- ENO2 (Varview), LRRC23 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTT=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
TTTTT=0.029412/16
(NorthernSweden)
- HGVS:
NC_000012.12:g.6913566_6913583del, NC_000012.12:g.6913569_6913583del, NC_000012.12:g.6913570_6913583del, NC_000012.12:g.6913571_6913583del, NC_000012.12:g.6913572_6913583del, NC_000012.12:g.6913573_6913583del, NC_000012.12:g.6913574_6913583del, NC_000012.12:g.6913575_6913583del, NC_000012.12:g.6913576_6913583del, NC_000012.12:g.6913577_6913583del, NC_000012.12:g.6913579_6913583del, NC_000012.12:g.6913581_6913583del, NC_000012.12:g.6913582_6913583del, NC_000012.12:g.6913583del, NC_000012.12:g.6913583dup, NC_000012.12:g.6913582_6913583dup, NC_000012.12:g.6913581_6913583dup, NC_000012.12:g.6913580_6913583dup, NC_000012.12:g.6913579_6913583dup, NC_000012.12:g.6913578_6913583dup, NC_000012.12:g.6913577_6913583dup, NC_000012.12:g.6913576_6913583dup, NC_000012.12:g.6913575_6913583dup, NC_000012.12:g.6913574_6913583dup, NC_000012.12:g.6913573_6913583dup, NC_000012.12:g.6913572_6913583dup, NC_000012.12:g.6913571_6913583dup, NC_000012.12:g.6913570_6913583dup, NC_000012.12:g.6913568_6913583dup, NC_000012.12:g.6913566_6913583dup, NC_000012.12:g.6913560_6913583dup, NC_000012.11:g.7022730_7022747del, NC_000012.11:g.7022733_7022747del, NC_000012.11:g.7022734_7022747del, NC_000012.11:g.7022735_7022747del, NC_000012.11:g.7022736_7022747del, NC_000012.11:g.7022737_7022747del, NC_000012.11:g.7022738_7022747del, NC_000012.11:g.7022739_7022747del, NC_000012.11:g.7022740_7022747del, NC_000012.11:g.7022741_7022747del, NC_000012.11:g.7022743_7022747del, NC_000012.11:g.7022745_7022747del, NC_000012.11:g.7022746_7022747del, NC_000012.11:g.7022747del, NC_000012.11:g.7022747dup, NC_000012.11:g.7022746_7022747dup, NC_000012.11:g.7022745_7022747dup, NC_000012.11:g.7022744_7022747dup, NC_000012.11:g.7022743_7022747dup, NC_000012.11:g.7022742_7022747dup, NC_000012.11:g.7022741_7022747dup, NC_000012.11:g.7022740_7022747dup, NC_000012.11:g.7022739_7022747dup, NC_000012.11:g.7022738_7022747dup, NC_000012.11:g.7022737_7022747dup, NC_000012.11:g.7022736_7022747dup, NC_000012.11:g.7022735_7022747dup, NC_000012.11:g.7022734_7022747dup, NC_000012.11:g.7022732_7022747dup, NC_000012.11:g.7022730_7022747dup, NC_000012.11:g.7022724_7022747dup, NW_003871083.2:g.115150_115167del, NW_003871083.2:g.115153_115167del, NW_003871083.2:g.115154_115167del, NW_003871083.2:g.115155_115167del, NW_003871083.2:g.115156_115167del, NW_003871083.2:g.115157_115167del, NW_003871083.2:g.115158_115167del, NW_003871083.2:g.115159_115167del, NW_003871083.2:g.115160_115167del, NW_003871083.2:g.115161_115167del, NW_003871083.2:g.115163_115167del, NW_003871083.2:g.115165_115167del, NW_003871083.2:g.115166_115167del, NW_003871083.2:g.115167del, NW_003871083.2:g.115167dup, NW_003871083.2:g.115166_115167dup, NW_003871083.2:g.115165_115167dup, NW_003871083.2:g.115164_115167dup, NW_003871083.2:g.115163_115167dup, NW_003871083.2:g.115162_115167dup, NW_003871083.2:g.115161_115167dup, NW_003871083.2:g.115160_115167dup, NW_003871083.2:g.115159_115167dup, NW_003871083.2:g.115158_115167dup, NW_003871083.2:g.115157_115167dup, NW_003871083.2:g.115156_115167dup, NW_003871083.2:g.115155_115167dup, NW_003871083.2:g.115154_115167dup, NW_003871083.2:g.115152_115167dup, NW_003871083.2:g.115150_115167dup, NW_003871083.2:g.115144_115167dup
20.
rs1486510624 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 12:6916821
(GRCh38)
12:7025985
(GRCh37)
- Canonical SPDI:
- NC_000012.12:6916820:T:A
- Gene:
- ENO2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS: