Links from Gene
Items: 1 to 20 of 1937
1.
rs1491536706 has merged into rs10591328 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT
[Show Flanks]
- Chromosome:
- 1:115926182
(GRCh38)
1:116468803
(GRCh37)
- Canonical SPDI:
- NC_000001.11:115926168:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:115926168:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:115926168:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:115926168:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:115926168:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:115926168:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:115926168:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:115926168:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:115926168:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:115926168:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- LOC101928977 (Varview), LINC01649 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTT=0./0
(
ALFA)
TTT=0.0605/303
(1000Genomes)
- HGVS:
NC_000001.11:g.115926182_115926188del, NC_000001.11:g.115926183_115926188del, NC_000001.11:g.115926184_115926188del, NC_000001.11:g.115926185_115926188del, NC_000001.11:g.115926186_115926188del, NC_000001.11:g.115926187_115926188del, NC_000001.11:g.115926188del, NC_000001.11:g.115926188dup, NC_000001.11:g.115926187_115926188dup, NC_000001.11:g.115926186_115926188dup, NC_000001.10:g.116468803_116468809del, NC_000001.10:g.116468804_116468809del, NC_000001.10:g.116468805_116468809del, NC_000001.10:g.116468806_116468809del, NC_000001.10:g.116468807_116468809del, NC_000001.10:g.116468808_116468809del, NC_000001.10:g.116468809del, NC_000001.10:g.116468809dup, NC_000001.10:g.116468808_116468809dup, NC_000001.10:g.116468807_116468809dup
2.
rs1491452650 has merged into rs56808836 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATAT>-,AT,ATATAT,ATATATAT,ATATATATAT
[Show Flanks]
- Chromosome:
- 1:115921411
(GRCh38)
1:116464032
(GRCh37)
- Canonical SPDI:
- NC_000001.11:115921401:TATATATATATAT:TATATATAT,NC_000001.11:115921401:TATATATATATAT:TATATATATAT,NC_000001.11:115921401:TATATATATATAT:TATATATATATATAT,NC_000001.11:115921401:TATATATATATAT:TATATATATATATATAT,NC_000001.11:115921401:TATATATATATAT:TATATATATATATATATAT
- Gene:
- LINC01649 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATATATATAT=0./0
(
ALFA)
TA=0.05541/247
(Estonian)
- HGVS:
4.
rs1491225822 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 1:115917800
(GRCh38)
1:116460422
(GRCh37)
- Canonical SPDI:
- NC_000001.11:115917800::G
- Gene:
- LINC01649 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.00008/1
(GnomAD)
- HGVS:
5.
rs1491190256 has merged into rs71096850 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 1:115917809
(GRCh38)
1:116460430
(GRCh37)
- Canonical SPDI:
- NC_000001.11:115917799:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000001.11:115917799:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:115917799:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:115917799:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:115917799:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:115917799:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:115917799:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:115917799:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:115917799:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:115917799:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:115917799:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:115917799:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:115917799:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:115917799:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:115917799:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:115917799:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:115917799:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:115917799:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:115917799:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:115917799:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:115917799:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:115917799:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:115917799:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:115917799:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:115917799:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:115917799:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:115917799:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:115917799:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:115917799:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- LINC01649 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAA=0./0
(
ALFA)
-=0.175/7
(GENOME_DK)
AAA=0.3736/1871
(1000Genomes)
- HGVS:
NC_000001.11:g.115917809_115917824del, NC_000001.11:g.115917810_115917824del, NC_000001.11:g.115917812_115917824del, NC_000001.11:g.115917813_115917824del, NC_000001.11:g.115917814_115917824del, NC_000001.11:g.115917815_115917824del, NC_000001.11:g.115917816_115917824del, NC_000001.11:g.115917817_115917824del, NC_000001.11:g.115917818_115917824del, NC_000001.11:g.115917819_115917824del, NC_000001.11:g.115917820_115917824del, NC_000001.11:g.115917821_115917824del, NC_000001.11:g.115917822_115917824del, NC_000001.11:g.115917823_115917824del, NC_000001.11:g.115917824del, NC_000001.11:g.115917824dup, NC_000001.11:g.115917823_115917824dup, NC_000001.11:g.115917822_115917824dup, NC_000001.11:g.115917821_115917824dup, NC_000001.11:g.115917820_115917824dup, NC_000001.11:g.115917819_115917824dup, NC_000001.11:g.115917818_115917824dup, NC_000001.11:g.115917817_115917824dup, NC_000001.11:g.115917815_115917824dup, NC_000001.11:g.115917813_115917824dup, NC_000001.11:g.115917808_115917824dup, NC_000001.11:g.115917804_115917824dup, NC_000001.11:g.115917824_115917825insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.115917800_115917824A[30]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.10:g.116460430_116460445del, NC_000001.10:g.116460431_116460445del, NC_000001.10:g.116460433_116460445del, NC_000001.10:g.116460434_116460445del, NC_000001.10:g.116460435_116460445del, NC_000001.10:g.116460436_116460445del, NC_000001.10:g.116460437_116460445del, NC_000001.10:g.116460438_116460445del, NC_000001.10:g.116460439_116460445del, NC_000001.10:g.116460440_116460445del, NC_000001.10:g.116460441_116460445del, NC_000001.10:g.116460442_116460445del, NC_000001.10:g.116460443_116460445del, NC_000001.10:g.116460444_116460445del, NC_000001.10:g.116460445del, NC_000001.10:g.116460445dup, NC_000001.10:g.116460444_116460445dup, NC_000001.10:g.116460443_116460445dup, NC_000001.10:g.116460442_116460445dup, NC_000001.10:g.116460441_116460445dup, NC_000001.10:g.116460440_116460445dup, NC_000001.10:g.116460439_116460445dup, NC_000001.10:g.116460438_116460445dup, NC_000001.10:g.116460436_116460445dup, NC_000001.10:g.116460434_116460445dup, NC_000001.10:g.116460429_116460445dup, NC_000001.10:g.116460425_116460445dup, NC_000001.10:g.116460445_116460446insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.116460421_116460445A[30]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
6.
rs1490491784 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 1:115920769
(GRCh38)
1:116463390
(GRCh37)
- Canonical SPDI:
- NC_000001.11:115920768:G:T
- Gene:
- LINC01649 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
7.
rs1489929318 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 1:115920286
(GRCh38)
1:116462907
(GRCh37)
- Canonical SPDI:
- NC_000001.11:115920285:A:C
- Gene:
- LINC01649 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000671/3
(
ALFA)
C=0.000014/2
(GnomAD)
C=0.00067/3
(Estonian)
- HGVS:
8.
rs1489550571 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 1:115919222
(GRCh38)
1:116461843
(GRCh37)
- Canonical SPDI:
- NC_000001.11:115919221:A:C
- Gene:
- LINC01649 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
9.
rs1489047720 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:115926224
(GRCh38)
1:116468845
(GRCh37)
- Canonical SPDI:
- NC_000001.11:115926223:G:A
- Gene:
- LOC101928977 (Varview), LINC01649 (Varview)
- Functional Consequence:
- intron_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
10.
rs1488024504 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 1:115922832
(GRCh38)
1:116465453
(GRCh37)
- Canonical SPDI:
- NC_000001.11:115922831:T:A,NC_000001.11:115922831:T:C
- Gene:
- LOC101928977 (Varview), LINC01649 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
C=0.0011/2
(Korea1K)
- HGVS:
11.
rs1486954602 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 1:115917470
(GRCh38)
1:116460091
(GRCh37)
- Canonical SPDI:
- NC_000001.11:115917469:G:A,NC_000001.11:115917469:G:T
- Gene:
- LINC01649 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
12.
rs1485779593 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:115925390
(GRCh38)
1:116468011
(GRCh37)
- Canonical SPDI:
- NC_000001.11:115925389:A:G
- Gene:
- LOC101928977 (Varview), LINC01649 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000015/4
(TOPMED)
- HGVS:
13.
rs1485715633 has merged into rs10591328 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT
[Show Flanks]
- Chromosome:
- 1:115926182
(GRCh38)
1:116468803
(GRCh37)
- Canonical SPDI:
- NC_000001.11:115926168:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:115926168:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:115926168:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:115926168:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:115926168:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:115926168:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:115926168:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:115926168:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:115926168:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:115926168:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- LOC101928977 (Varview), LINC01649 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTT=0./0
(
ALFA)
TTT=0.0605/303
(1000Genomes)
- HGVS:
NC_000001.11:g.115926182_115926188del, NC_000001.11:g.115926183_115926188del, NC_000001.11:g.115926184_115926188del, NC_000001.11:g.115926185_115926188del, NC_000001.11:g.115926186_115926188del, NC_000001.11:g.115926187_115926188del, NC_000001.11:g.115926188del, NC_000001.11:g.115926188dup, NC_000001.11:g.115926187_115926188dup, NC_000001.11:g.115926186_115926188dup, NC_000001.10:g.116468803_116468809del, NC_000001.10:g.116468804_116468809del, NC_000001.10:g.116468805_116468809del, NC_000001.10:g.116468806_116468809del, NC_000001.10:g.116468807_116468809del, NC_000001.10:g.116468808_116468809del, NC_000001.10:g.116468809del, NC_000001.10:g.116468809dup, NC_000001.10:g.116468808_116468809dup, NC_000001.10:g.116468807_116468809dup
14.
rs1485451802 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:115925870
(GRCh38)
1:116468491
(GRCh37)
- Canonical SPDI:
- NC_000001.11:115925869:G:A
- Gene:
- LOC101928977 (Varview), LINC01649 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000021/3
(GnomAD)
- HGVS:
15.
rs1484660682 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:115917525
(GRCh38)
1:116460146
(GRCh37)
- Canonical SPDI:
- NC_000001.11:115917524:G:A
- Gene:
- LINC01649 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency
- MAF:
A=0.000007/1
(GnomAD)
- HGVS:
16.
rs1484492038 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 1:115926081
(GRCh38)
1:116468702
(GRCh37)
- Canonical SPDI:
- NC_000001.11:115926080:CCC:CC
- Gene:
- LOC101928977 (Varview), LINC01649 (Varview)
- Functional Consequence:
- intron_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CC=0.000066/1
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000223/1
(Estonian)
- HGVS:
17.
rs1483944218 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:115922697
(GRCh38)
1:116465318
(GRCh37)
- Canonical SPDI:
- NC_000001.11:115922696:A:G
- Gene:
- LOC101928977 (Varview), LINC01649 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
18.
rs1482852832 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:115923483
(GRCh38)
1:116466104
(GRCh37)
- Canonical SPDI:
- NC_000001.11:115923482:G:A
- Gene:
- LOC101928977 (Varview), LINC01649 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000021/3
(GnomAD)
A=0.000038/10
(TOPMED)
- HGVS:
19.
rs1482730070 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:115920459
(GRCh38)
1:116463080
(GRCh37)
- Canonical SPDI:
- NC_000001.11:115920458:G:A
- Gene:
- LINC01649 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.00003/8
(TOPMED)
A=0.00005/7
(GnomAD)
- HGVS:
20.
rs1482513101 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:115924190
(GRCh38)
1:116466811
(GRCh37)
- Canonical SPDI:
- NC_000001.11:115924189:G:A
- Gene:
- LOC101928977 (Varview), LINC01649 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000272/72
(TOPMED)
A=0.0003/42
(GnomAD)
- HGVS: