Links from Gene
Items: 1 to 20 of 4410
2.
rs1491440852 has merged into rs61219158 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 1:26062280
(GRCh38)
1:26388771
(GRCh37)
- Canonical SPDI:
- NC_000001.11:26062270:AAAAAAAAAAAAAAA:AAAAAAAAA,NC_000001.11:26062270:AAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:26062270:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:26062270:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:26062270:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:26062270:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:26062270:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:26062270:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:26062270:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:26062270:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- TRIM63 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAA=0./0
(
ALFA)
-=0.06072/234
(ALSPAC)
- HGVS:
NC_000001.11:g.26062280_26062285del, NC_000001.11:g.26062281_26062285del, NC_000001.11:g.26062283_26062285del, NC_000001.11:g.26062284_26062285del, NC_000001.11:g.26062285del, NC_000001.11:g.26062285dup, NC_000001.11:g.26062284_26062285dup, NC_000001.11:g.26062283_26062285dup, NC_000001.11:g.26062282_26062285dup, NC_000001.11:g.26062274_26062285dup, NC_000001.10:g.26388771_26388776del, NC_000001.10:g.26388772_26388776del, NC_000001.10:g.26388774_26388776del, NC_000001.10:g.26388775_26388776del, NC_000001.10:g.26388776del, NC_000001.10:g.26388776dup, NC_000001.10:g.26388775_26388776dup, NC_000001.10:g.26388774_26388776dup, NC_000001.10:g.26388773_26388776dup, NC_000001.10:g.26388765_26388776dup, NG_033268.1:g.10359_10364del, NG_033268.1:g.10360_10364del, NG_033268.1:g.10362_10364del, NG_033268.1:g.10363_10364del, NG_033268.1:g.10364del, NG_033268.1:g.10364dup, NG_033268.1:g.10363_10364dup, NG_033268.1:g.10362_10364dup, NG_033268.1:g.10361_10364dup, NG_033268.1:g.10353_10364dup
3.
rs1491237868 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 1:26069308
(GRCh38)
1:26395799
(GRCh37)
- Canonical SPDI:
- NC_000001.11:26069307:CA:
- Gene:
- TRIM63 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.000759/9
(
ALFA)
-=0.000111/12
(GnomAD)
- HGVS:
4.
rs1491229117 has merged into rs71004562 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTTTGTTTGTTTGTTT>-,GTTT,GTTTGTTT,GTTTGTTTGTTT,GTTTGTTTGTTTGTTTGTTT,GTTTGTTTGTTTGTTTGTTTGTTT,GTTTGTTTGTTTGTTTGTTTGTTTGTTT,GTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTT,GTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTT
[Show Flanks]
- Chromosome:
- 1:26063072
(GRCh38)
1:26389563
(GRCh37)
- Canonical SPDI:
- NC_000001.11:26063056:TTTGTTTGTTTGTTTGTTTGTTTGTTTGTTT:TTTGTTTGTTTGTTT,NC_000001.11:26063056:TTTGTTTGTTTGTTTGTTTGTTTGTTTGTTT:TTTGTTTGTTTGTTTGTTT,NC_000001.11:26063056:TTTGTTTGTTTGTTTGTTTGTTTGTTTGTTT:TTTGTTTGTTTGTTTGTTTGTTT,NC_000001.11:26063056:TTTGTTTGTTTGTTTGTTTGTTTGTTTGTTT:TTTGTTTGTTTGTTTGTTTGTTTGTTT,NC_000001.11:26063056:TTTGTTTGTTTGTTTGTTTGTTTGTTTGTTT:TTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTT,NC_000001.11:26063056:TTTGTTTGTTTGTTTGTTTGTTTGTTTGTTT:TTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTT,NC_000001.11:26063056:TTTGTTTGTTTGTTTGTTTGTTTGTTTGTTT:TTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTT,NC_000001.11:26063056:TTTGTTTGTTTGTTTGTTTGTTTGTTTGTTT:TTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTT,NC_000001.11:26063056:TTTGTTTGTTTGTTTGTTTGTTTGTTTGTTT:TTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTT
- Gene:
- TRIM63 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTGTTTGTTTGTTTGTTT=0./0
(
ALFA)
TTTG=0.45/18
(GENOME_DK)
- HGVS:
NC_000001.11:g.26063060GTTT[3], NC_000001.11:g.26063060GTTT[4], NC_000001.11:g.26063060GTTT[5], NC_000001.11:g.26063060GTTT[6], NC_000001.11:g.26063060GTTT[8], NC_000001.11:g.26063060GTTT[9], NC_000001.11:g.26063060GTTT[10], NC_000001.11:g.26063060GTTT[11], NC_000001.11:g.26063060GTTT[12], NC_000001.10:g.26389551GTTT[3], NC_000001.10:g.26389551GTTT[4], NC_000001.10:g.26389551GTTT[5], NC_000001.10:g.26389551GTTT[6], NC_000001.10:g.26389551GTTT[8], NC_000001.10:g.26389551GTTT[9], NC_000001.10:g.26389551GTTT[10], NC_000001.10:g.26389551GTTT[11], NC_000001.10:g.26389551GTTT[12], NG_033268.1:g.9551CAAA[3], NG_033268.1:g.9551CAAA[4], NG_033268.1:g.9551CAAA[5], NG_033268.1:g.9551CAAA[6], NG_033268.1:g.9551CAAA[8], NG_033268.1:g.9551CAAA[9], NG_033268.1:g.9551CAAA[10], NG_033268.1:g.9551CAAA[11], NG_033268.1:g.9551CAAA[12]
5.
rs1491223968 has merged into rs986591996 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTT>-,T,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 1:26059032
(GRCh38)
1:26385523
(GRCh37)
- Canonical SPDI:
- NC_000001.11:26059023:TTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000001.11:26059023:TTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000001.11:26059023:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:26059023:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:26059023:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:26059023:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:26059023:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:26059023:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:26059023:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:26059023:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:26059023:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:26059023:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:26059023:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:26059023:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- TRIM63 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000001.11:g.26059032_26059042del, NC_000001.11:g.26059033_26059042del, NC_000001.11:g.26059036_26059042del, NC_000001.11:g.26059038_26059042del, NC_000001.11:g.26059039_26059042del, NC_000001.11:g.26059040_26059042del, NC_000001.11:g.26059041_26059042del, NC_000001.11:g.26059042del, NC_000001.11:g.26059042dup, NC_000001.11:g.26059041_26059042dup, NC_000001.11:g.26059040_26059042dup, NC_000001.11:g.26059039_26059042dup, NC_000001.11:g.26059038_26059042dup, NC_000001.11:g.26059034_26059042dup, NC_000001.10:g.26385523_26385533del, NC_000001.10:g.26385524_26385533del, NC_000001.10:g.26385527_26385533del, NC_000001.10:g.26385529_26385533del, NC_000001.10:g.26385530_26385533del, NC_000001.10:g.26385531_26385533del, NC_000001.10:g.26385532_26385533del, NC_000001.10:g.26385533del, NC_000001.10:g.26385533dup, NC_000001.10:g.26385532_26385533dup, NC_000001.10:g.26385531_26385533dup, NC_000001.10:g.26385530_26385533dup, NC_000001.10:g.26385529_26385533dup, NC_000001.10:g.26385525_26385533dup, NG_033268.1:g.13601_13611del, NG_033268.1:g.13602_13611del, NG_033268.1:g.13605_13611del, NG_033268.1:g.13607_13611del, NG_033268.1:g.13608_13611del, NG_033268.1:g.13609_13611del, NG_033268.1:g.13610_13611del, NG_033268.1:g.13611del, NG_033268.1:g.13611dup, NG_033268.1:g.13610_13611dup, NG_033268.1:g.13609_13611dup, NG_033268.1:g.13608_13611dup, NG_033268.1:g.13607_13611dup, NG_033268.1:g.13603_13611dup
6.
rs1491205141 has merged into rs200789607 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAA>-,AAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 1:26069312
(GRCh38)
1:26395803
(GRCh37)
- Canonical SPDI:
- NC_000001.11:26069308:AAAAAAAAAAAAAAAA:AAA,NC_000001.11:26069308:AAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000001.11:26069308:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:26069308:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:26069308:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:26069308:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:26069308:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:26069308:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
- Gene:
- TRIM63 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAA=0./0
(
ALFA)
-=0.000034/9
(TOPMED)
- HGVS:
NC_000001.11:g.26069312_26069324del, NC_000001.11:g.26069318_26069324del, NC_000001.11:g.26069321_26069324del, NC_000001.11:g.26069322_26069324del, NC_000001.11:g.26069323_26069324del, NC_000001.11:g.26069324del, NC_000001.11:g.26069324dup, NC_000001.11:g.26069323_26069324dup, NC_000001.10:g.26395803_26395815del, NC_000001.10:g.26395809_26395815del, NC_000001.10:g.26395812_26395815del, NC_000001.10:g.26395813_26395815del, NC_000001.10:g.26395814_26395815del, NC_000001.10:g.26395815del, NC_000001.10:g.26395815dup, NC_000001.10:g.26395814_26395815dup, NG_033268.1:g.3314_3326del, NG_033268.1:g.3320_3326del, NG_033268.1:g.3323_3326del, NG_033268.1:g.3324_3326del, NG_033268.1:g.3325_3326del, NG_033268.1:g.3326del, NG_033268.1:g.3326dup, NG_033268.1:g.3325_3326dup
7.
rs1491082349 has merged into rs71004563 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 1:26069514
(GRCh38)
1:26396005
(GRCh37)
- Canonical SPDI:
- NC_000001.11:26069500:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:26069500:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:26069500:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:26069500:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:26069500:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:26069500:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:26069500:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:26069500:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- TRIM63 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTT=0./0
(
ALFA)
TT=0.0917/340
(TWINSUK)
TT=0.1575/607
(ALSPAC)
- HGVS:
NC_000001.11:g.26069514_26069517del, NC_000001.11:g.26069515_26069517del, NC_000001.11:g.26069516_26069517del, NC_000001.11:g.26069517del, NC_000001.11:g.26069517dup, NC_000001.11:g.26069516_26069517dup, NC_000001.11:g.26069515_26069517dup, NC_000001.11:g.26069510_26069517dup, NC_000001.10:g.26396005_26396008del, NC_000001.10:g.26396006_26396008del, NC_000001.10:g.26396007_26396008del, NC_000001.10:g.26396008del, NC_000001.10:g.26396008dup, NC_000001.10:g.26396007_26396008dup, NC_000001.10:g.26396006_26396008dup, NC_000001.10:g.26396001_26396008dup, NG_033268.1:g.3131_3134del, NG_033268.1:g.3132_3134del, NG_033268.1:g.3133_3134del, NG_033268.1:g.3134del, NG_033268.1:g.3134dup, NG_033268.1:g.3133_3134dup, NG_033268.1:g.3132_3134dup, NG_033268.1:g.3127_3134dup
8.
rs1490862677 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:26055213
(GRCh38)
1:26381704
(GRCh37)
- Canonical SPDI:
- NC_000001.11:26055212:T:C
- Gene:
- TRIM63 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
9.
rs1490823225 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CAGATGA>-
[Show Flanks]
- Chromosome:
- 1:26058252
(GRCh38)
1:26384743
(GRCh37)
- Canonical SPDI:
- NC_000001.11:26058248:TGACAGATGA:TGA
- Gene:
- TRIM63 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGA=0.000071/1
(
ALFA)
-=0.000014/2
(GnomAD)
-=0.000034/9
(TOPMED)
- HGVS:
10.
rs1490684884 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 1:26055767
(GRCh38)
1:26382258
(GRCh37)
- Canonical SPDI:
- NC_000001.11:26055766:C:G
- Gene:
- TRIM63 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
11.
rs1490522560 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 1:26054692
(GRCh38)
1:26381183
(GRCh37)
- Canonical SPDI:
- NC_000001.11:26054691:C:G,NC_000001.11:26054691:C:T
- Gene:
- TRIM63 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
12.
rs1490461567 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 1:26061805
(GRCh38)
1:26388296
(GRCh37)
- Canonical SPDI:
- NC_000001.11:26061804:G:C
- Gene:
- TRIM63 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
13.
rs1490156065 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 1:26052558
(GRCh38)
1:26379049
(GRCh37)
- Canonical SPDI:
- NC_000001.11:26052557:T:
- Gene:
- TRIM63 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000011/3
(TOPMED)
- HGVS:
14.
rs1490028839 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:26053473
(GRCh38)
1:26379964
(GRCh37)
- Canonical SPDI:
- NC_000001.11:26053472:T:C
- Gene:
- TRIM63 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000071/1
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
15.
rs1489979599 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:26052250
(GRCh38)
1:26378741
(GRCh37)
- Canonical SPDI:
- NC_000001.11:26052249:T:C
- Gene:
- TRIM63 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000026/7
(TOPMED)
- HGVS:
16.
rs1489735240 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:26052946
(GRCh38)
1:26379437
(GRCh37)
- Canonical SPDI:
- NC_000001.11:26052945:A:G
- Gene:
- TRIM63 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
17.
rs1489629624 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:26067382
(GRCh38)
1:26393873
(GRCh37)
- Canonical SPDI:
- NC_000001.11:26067381:G:A
- Gene:
- TRIM63 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(GnomAD_exomes)
A=0.000007/1
(GnomAD)
A=0.000011/3
(TOPMED)
- HGVS:
18.
rs1489543837 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:26068651
(GRCh38)
1:26395142
(GRCh37)
- Canonical SPDI:
- NC_000001.11:26068650:A:G
- Gene:
- TRIM63 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000084/1
(
ALFA)
G=0.000014/2
(GnomAD)
- HGVS:
19.
rs1488917124 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:26052520
(GRCh38)
1:26379011
(GRCh37)
- Canonical SPDI:
- NC_000001.11:26052519:A:G
- Gene:
- TRIM63 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.0002/1
(
ALFA)
G=0.0002/1
(Estonian)
A=0.5/1
(SGDP_PRJ)
- HGVS:
20.
rs1488852824 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:26066939
(GRCh38)
1:26393430
(GRCh37)
- Canonical SPDI:
- NC_000001.11:26066938:A:G
- Gene:
- TRIM63 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000021/3
(GnomAD)
- HGVS: