Links from Gene
Items: 1 to 20 of 1942
1.
rs1491588524 has merged into rs1170709894 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAAA>-,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 17:42771962
(GRCh38)
17:40923980
(GRCh37)
- Canonical SPDI:
- NC_000017.11:42771953:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000017.11:42771953:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:42771953:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:42771953:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:42771953:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:42771953:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:42771953:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:42771953:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:42771953:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:42771953:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:42771953:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:42771953:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:42771953:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:42771953:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:42771953:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:42771953:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:42771953:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:42771953:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:42771953:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:42771953:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:42771953:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:42771953:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:42771953:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:42771953:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:42771953:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- VPS25 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000017.11:g.42771962_42771978del, NC_000017.11:g.42771964_42771978del, NC_000017.11:g.42771966_42771978del, NC_000017.11:g.42771967_42771978del, NC_000017.11:g.42771968_42771978del, NC_000017.11:g.42771969_42771978del, NC_000017.11:g.42771970_42771978del, NC_000017.11:g.42771971_42771978del, NC_000017.11:g.42771972_42771978del, NC_000017.11:g.42771973_42771978del, NC_000017.11:g.42771974_42771978del, NC_000017.11:g.42771975_42771978del, NC_000017.11:g.42771976_42771978del, NC_000017.11:g.42771977_42771978del, NC_000017.11:g.42771978del, NC_000017.11:g.42771978dup, NC_000017.11:g.42771977_42771978dup, NC_000017.11:g.42771976_42771978dup, NC_000017.11:g.42771975_42771978dup, NC_000017.11:g.42771974_42771978dup, NC_000017.11:g.42771973_42771978dup, NC_000017.11:g.42771971_42771978dup, NC_000017.11:g.42771970_42771978dup, NC_000017.11:g.42771958_42771978dup, NC_000017.11:g.42771978_42771979insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.40923980_40923996del, NC_000017.10:g.40923982_40923996del, NC_000017.10:g.40923984_40923996del, NC_000017.10:g.40923985_40923996del, NC_000017.10:g.40923986_40923996del, NC_000017.10:g.40923987_40923996del, NC_000017.10:g.40923988_40923996del, NC_000017.10:g.40923989_40923996del, NC_000017.10:g.40923990_40923996del, NC_000017.10:g.40923991_40923996del, NC_000017.10:g.40923992_40923996del, NC_000017.10:g.40923993_40923996del, NC_000017.10:g.40923994_40923996del, NC_000017.10:g.40923995_40923996del, NC_000017.10:g.40923996del, NC_000017.10:g.40923996dup, NC_000017.10:g.40923995_40923996dup, NC_000017.10:g.40923994_40923996dup, NC_000017.10:g.40923993_40923996dup, NC_000017.10:g.40923992_40923996dup, NC_000017.10:g.40923991_40923996dup, NC_000017.10:g.40923989_40923996dup, NC_000017.10:g.40923988_40923996dup, NC_000017.10:g.40923976_40923996dup, NC_000017.10:g.40923996_40923997insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA ...more
2.
rs1491091940 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 17:42771953
(GRCh38)
17:40923971
(GRCh37)
- Canonical SPDI:
- NC_000017.11:42771952:CA:
- Gene:
- VPS25 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00008/1
(
ALFA)
-=0.00037/21
(GnomAD)
-=0.00209/33
(TOMMO)
-=0.03633/63
(Korea1K)
...more- HGVS:
3.
rs1490902259 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:42773357
(GRCh38)
17:40925375
(GRCh37)
- Canonical SPDI:
- NC_000017.11:42773356:G:A
- Gene:
- VPS25 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
...more- HGVS:
4.
rs1490468819 has merged into rs1161401913 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 17:42774381
(GRCh38)
17:40926399
(GRCh37)
- Canonical SPDI:
- NC_000017.11:42774372:TTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000017.11:42774372:TTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000017.11:42774372:TTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000017.11:42774372:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:42774372:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:42774372:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:42774372:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:42774372:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:42774372:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:42774372:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:42774372:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:42774372:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:42774372:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:42774372:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:42774372:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:42774372:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:42774372:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:42774372:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:42774372:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- VPS25 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000017.11:g.42774381_42774390del, NC_000017.11:g.42774382_42774390del, NC_000017.11:g.42774383_42774390del, NC_000017.11:g.42774384_42774390del, NC_000017.11:g.42774385_42774390del, NC_000017.11:g.42774386_42774390del, NC_000017.11:g.42774387_42774390del, NC_000017.11:g.42774388_42774390del, NC_000017.11:g.42774389_42774390del, NC_000017.11:g.42774390del, NC_000017.11:g.42774390dup, NC_000017.11:g.42774389_42774390dup, NC_000017.11:g.42774388_42774390dup, NC_000017.11:g.42774387_42774390dup, NC_000017.11:g.42774386_42774390dup, NC_000017.11:g.42774385_42774390dup, NC_000017.11:g.42774383_42774390dup, NC_000017.11:g.42774382_42774390dup, NC_000017.11:g.42774381_42774390dup, NC_000017.10:g.40926399_40926408del, NC_000017.10:g.40926400_40926408del, NC_000017.10:g.40926401_40926408del, NC_000017.10:g.40926402_40926408del, NC_000017.10:g.40926403_40926408del, NC_000017.10:g.40926404_40926408del, NC_000017.10:g.40926405_40926408del, NC_000017.10:g.40926406_40926408del, NC_000017.10:g.40926407_40926408del, NC_000017.10:g.40926408del, NC_000017.10:g.40926408dup, NC_000017.10:g.40926407_40926408dup, NC_000017.10:g.40926406_40926408dup, NC_000017.10:g.40926405_40926408dup, NC_000017.10:g.40926404_40926408dup, NC_000017.10:g.40926403_40926408dup, NC_000017.10:g.40926401_40926408dup, NC_000017.10:g.40926400_40926408dup, NC_000017.10:g.40926399_40926408dup ...more
5.
rs1489014468 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:42780030
(GRCh38)
17:40932048
(GRCh37)
- Canonical SPDI:
- NC_000017.11:42780029:G:A
- Gene:
- WNK4 (Varview), VPS25 (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=0.000008/2
(TOPMED)
A=0.000531/9
(TOMMO)
A=0.000546/1
(Korea1K)
...more- HGVS:
7.
rs1488615601 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 17:42779660
(GRCh38)
17:40931678
(GRCh37)
- Canonical SPDI:
- NC_000017.11:42779659:G:T
- Gene:
- WNK4 (Varview), VPS25 (Varview)
- Functional Consequence:
- downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
9.
rs1487124065 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 17:42774026
(GRCh38)
17:40926044
(GRCh37)
- Canonical SPDI:
- NC_000017.11:42774025:T:C
- Gene:
- VPS25 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000011/3
(TOPMED)
...more- HGVS:
10.
rs1486046867 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:42772924
(GRCh38)
17:40924942
(GRCh37)
- Canonical SPDI:
- NC_000017.11:42772923:G:A
- Gene:
- VPS25 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000019/5
(TOPMED)
A=0.000043/6
(GnomAD)
...more- HGVS:
11.
rs1485698350 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:42774037
(GRCh38)
17:40926055
(GRCh37)
- Canonical SPDI:
- NC_000017.11:42774036:C:T
- Gene:
- VPS25 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000224/1
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000223/1
(Estonian)
...more- HGVS:
12.
rs1485336995 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 17:42772555
(GRCh38)
17:40924573
(GRCh37)
- Canonical SPDI:
- NC_000017.11:42772554:T:C
- Gene:
- VPS25 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
...more- HGVS:
13.
rs1484983547 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:42771622
(GRCh38)
17:40923640
(GRCh37)
- Canonical SPDI:
- NC_000017.11:42771621:G:A
- Gene:
- VPS25 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
...more- HGVS:
14.
rs1484032622 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:42777439
(GRCh38)
17:40929457
(GRCh37)
- Canonical SPDI:
- NC_000017.11:42777438:C:T
- Gene:
- VPS25 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000015/4
(TOPMED)
T=0.000021/3
(GnomAD)
...more- HGVS:
15.
rs1484021703 has merged into rs1205721262 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 17:42776678
(GRCh38)
17:40928696
(GRCh37)
- Canonical SPDI:
- NC_000017.11:42776663:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:42776663:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:42776663:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:42776663:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:42776663:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:42776663:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:42776663:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:42776663:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:42776663:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:42776663:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:42776663:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:42776663:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- VPS25 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTTTT=0./0
(
ALFA)
- HGVS:
NC_000017.11:g.42776678_42776682del, NC_000017.11:g.42776679_42776682del, NC_000017.11:g.42776680_42776682del, NC_000017.11:g.42776681_42776682del, NC_000017.11:g.42776682del, NC_000017.11:g.42776682dup, NC_000017.11:g.42776681_42776682dup, NC_000017.11:g.42776680_42776682dup, NC_000017.11:g.42776679_42776682dup, NC_000017.11:g.42776678_42776682dup, NC_000017.11:g.42776677_42776682dup, NC_000017.11:g.42776671_42776682dup, NC_000017.10:g.40928696_40928700del, NC_000017.10:g.40928697_40928700del, NC_000017.10:g.40928698_40928700del, NC_000017.10:g.40928699_40928700del, NC_000017.10:g.40928700del, NC_000017.10:g.40928700dup, NC_000017.10:g.40928699_40928700dup, NC_000017.10:g.40928698_40928700dup, NC_000017.10:g.40928697_40928700dup, NC_000017.10:g.40928696_40928700dup, NC_000017.10:g.40928695_40928700dup, NC_000017.10:g.40928689_40928700dup, NG_016227.1:g.1048_1052del, NG_016227.1:g.1049_1052del, NG_016227.1:g.1050_1052del, NG_016227.1:g.1051_1052del, NG_016227.1:g.1052del, NG_016227.1:g.1052dup, NG_016227.1:g.1051_1052dup, NG_016227.1:g.1050_1052dup, NG_016227.1:g.1049_1052dup, NG_016227.1:g.1048_1052dup, NG_016227.1:g.1047_1052dup, NG_016227.1:g.1041_1052dup ...more
16.
rs1483878537 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:42775429
(GRCh38)
17:40927447
(GRCh37)
- Canonical SPDI:
- NC_000017.11:42775428:G:A
- Gene:
- VPS25 (Varview)
- Functional Consequence:
- stop_gained,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
...more- HGVS:
17.
rs1483853886 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ACAAA>-
[Show Flanks]
- Chromosome:
- 17:42773059
(GRCh38)
17:40925077
(GRCh37)
- Canonical SPDI:
- NC_000017.11:42773055:AAAACAAA:AAA
- Gene:
- VPS25 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
AAA=0./0
(
ALFA)
-=0.000015/4
(TOPMED)
- HGVS:
18.
rs1483714053 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 17:42776593
(GRCh38)
17:40928611
(GRCh37)
- Canonical SPDI:
- NC_000017.11:42776592:A:C,NC_000017.11:42776592:A:G
- Gene:
- VPS25 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
C=0.002183/4
(Korea1K)
...more- HGVS:
19.
rs1483706207 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:42776381
(GRCh38)
17:40928399
(GRCh37)
- Canonical SPDI:
- NC_000017.11:42776380:G:A
- Gene:
- VPS25 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000014/2
(GnomAD)
...more- HGVS:
20.
rs1483697092 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:42777148
(GRCh38)
17:40929166
(GRCh37)
- Canonical SPDI:
- NC_000017.11:42777147:G:A
- Gene:
- VPS25 (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)
...more- HGVS: