Links from Gene
Items: 1 to 20 of 4931
1.
rs1491298768 has merged into rs1179791429 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 3:130101463
(GRCh38)
3:129820306
(GRCh37)
- Canonical SPDI:
- NC_000003.12:130101452:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000003.12:130101452:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:130101452:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:130101452:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:130101452:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:130101452:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:130101452:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:130101452:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:130101452:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:130101452:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:130101452:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:130101452:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:130101452:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:130101452:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:130101452:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:130101452:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:130101452:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:130101452:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:130101452:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:130101452:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:130101452:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:130101452:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:130101452:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:130101452:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:130101452:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:130101452:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:130101452:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:130101452:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- FAM86HP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000003.12:g.130101463_130101479del, NC_000003.12:g.130101464_130101479del, NC_000003.12:g.130101466_130101479del, NC_000003.12:g.130101467_130101479del, NC_000003.12:g.130101468_130101479del, NC_000003.12:g.130101469_130101479del, NC_000003.12:g.130101470_130101479del, NC_000003.12:g.130101471_130101479del, NC_000003.12:g.130101473_130101479del, NC_000003.12:g.130101474_130101479del, NC_000003.12:g.130101475_130101479del, NC_000003.12:g.130101476_130101479del, NC_000003.12:g.130101477_130101479del, NC_000003.12:g.130101478_130101479del, NC_000003.12:g.130101479del, NC_000003.12:g.130101479dup, NC_000003.12:g.130101478_130101479dup, NC_000003.12:g.130101477_130101479dup, NC_000003.12:g.130101476_130101479dup, NC_000003.12:g.130101475_130101479dup, NC_000003.12:g.130101470_130101479dup, NC_000003.12:g.130101469_130101479dup, NC_000003.12:g.130101468_130101479dup, NC_000003.12:g.130101467_130101479dup, NC_000003.12:g.130101464_130101479dup, NC_000003.12:g.130101463_130101479dup, NC_000003.12:g.130101462_130101479dup, NC_000003.12:g.130101459_130101479dup, NC_000003.11:g.129820306_129820322del, NC_000003.11:g.129820307_129820322del, NC_000003.11:g.129820309_129820322del, NC_000003.11:g.129820310_129820322del, NC_000003.11:g.129820311_129820322del, NC_000003.11:g.129820312_129820322del, NC_000003.11:g.129820313_129820322del, NC_000003.11:g.129820314_129820322del, NC_000003.11:g.129820316_129820322del, NC_000003.11:g.129820317_129820322del, NC_000003.11:g.129820318_129820322del, NC_000003.11:g.129820319_129820322del, NC_000003.11:g.129820320_129820322del, NC_000003.11:g.129820321_129820322del, NC_000003.11:g.129820322del, NC_000003.11:g.129820322dup, NC_000003.11:g.129820321_129820322dup, NC_000003.11:g.129820320_129820322dup, NC_000003.11:g.129820319_129820322dup, NC_000003.11:g.129820318_129820322dup, NC_000003.11:g.129820313_129820322dup, NC_000003.11:g.129820312_129820322dup, NC_000003.11:g.129820311_129820322dup, NC_000003.11:g.129820310_129820322dup, NC_000003.11:g.129820307_129820322dup, NC_000003.11:g.129820306_129820322dup, NC_000003.11:g.129820305_129820322dup, NC_000003.11:g.129820302_129820322dup
2.
rs1491155577 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 3:130101452
(GRCh38)
3:129820295
(GRCh37)
- Canonical SPDI:
- NC_000003.12:130101451:CA:
- Gene:
- FAM86HP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00287/34
(
ALFA)
-=0.00072/19
(TOMMO)
- HGVS:
3.
rs1490833788 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 3:130104389
(GRCh38)
3:129823232
(GRCh37)
- Canonical SPDI:
- NC_000003.12:130104388:C:A
- Gene:
- FAM86HP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000021/3
(GnomAD)
- HGVS:
4.
rs1490704724 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 3:130110882
(GRCh38)
3:129829725
(GRCh37)
- Canonical SPDI:
- NC_000003.12:130110881:C:T
- Gene:
- FAM86HP (Varview), LINC02021 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
T=0.000035/1
(TOMMO)
C=0.5/1
(SGDP_PRJ)
- HGVS:
5.
rs1490676105 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 3:130100776
(GRCh38)
3:129819619
(GRCh37)
- Canonical SPDI:
- NC_000003.12:130100775:A:G
- Gene:
- FAM86HP (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:
6.
rs1490671413 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 3:130103771
(GRCh38)
3:129822614
(GRCh37)
- Canonical SPDI:
- NC_000003.12:130103770:C:T
- Gene:
- FAM86HP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000084/1
(
ALFA)
T=0.000026/7
(TOPMED)
T=0.000036/5
(GnomAD)
- HGVS:
7.
rs1490411747 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 3:130105735
(GRCh38)
3:129824578
(GRCh37)
- Canonical SPDI:
- NC_000003.12:130105734:G:A
- Gene:
- FAM86HP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
8.
rs1490196234 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 3:130104697
(GRCh38)
3:129823540
(GRCh37)
- Canonical SPDI:
- NC_000003.12:130104696:G:T
- Gene:
- FAM86HP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
9.
rs1489908439 has merged into rs71158168 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ACACACACACACACACACACACACACACACACACACAC>-,AC,ACAC,ACACAC,ACACACAC,ACACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC,ACACACACACACACACACACAC,ACACACACACACACACACACACAC,ACACACACACACACACACACACACAC,ACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACACACAC
[Show Flanks]
- Chromosome:
- 3:130099995
(GRCh38)
3:129818838
(GRCh37)
- Canonical SPDI:
- NC_000003.12:130099980:ACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACAC,NC_000003.12:130099980:ACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACAC,NC_000003.12:130099980:ACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACAC,NC_000003.12:130099980:ACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACAC,NC_000003.12:130099980:ACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACAC,NC_000003.12:130099980:ACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACAC,NC_000003.12:130099980:ACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACAC,NC_000003.12:130099980:ACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACAC,NC_000003.12:130099980:ACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACAC,NC_000003.12:130099980:ACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACAC,NC_000003.12:130099980:ACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACAC,NC_000003.12:130099980:ACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACAC,NC_000003.12:130099980:ACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACAC,NC_000003.12:130099980:ACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACAC,NC_000003.12:130099980:ACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACAC,NC_000003.12:130099980:ACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACAC,NC_000003.12:130099980:ACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACAC,NC_000003.12:130099980:ACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000003.12:130099980:ACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000003.12:130099980:ACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000003.12:130099980:ACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000003.12:130099980:ACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000003.12:130099980:ACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000003.12:130099980:ACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000003.12:130099980:ACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000003.12:130099980:ACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000003.12:130099980:ACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC
- Gene:
- FAM86HP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACACACACAC=0./0
(
ALFA)
ACACACACACACACACACACACACACACAC=0.15/6
(GENOME_DK)
- HGVS:
NC_000003.12:g.130099981AC[7], NC_000003.12:g.130099981AC[8], NC_000003.12:g.130099981AC[9], NC_000003.12:g.130099981AC[10], NC_000003.12:g.130099981AC[11], NC_000003.12:g.130099981AC[12], NC_000003.12:g.130099981AC[13], NC_000003.12:g.130099981AC[14], NC_000003.12:g.130099981AC[15], NC_000003.12:g.130099981AC[16], NC_000003.12:g.130099981AC[17], NC_000003.12:g.130099981AC[18], NC_000003.12:g.130099981AC[19], NC_000003.12:g.130099981AC[20], NC_000003.12:g.130099981AC[21], NC_000003.12:g.130099981AC[22], NC_000003.12:g.130099981AC[23], NC_000003.12:g.130099981AC[24], NC_000003.12:g.130099981AC[25], NC_000003.12:g.130099981AC[27], NC_000003.12:g.130099981AC[28], NC_000003.12:g.130099981AC[29], NC_000003.12:g.130099981AC[30], NC_000003.12:g.130099981AC[31], NC_000003.12:g.130099981AC[32], NC_000003.12:g.130099981AC[33], NC_000003.12:g.130099981AC[34], NC_000003.11:g.129818824AC[7], NC_000003.11:g.129818824AC[8], NC_000003.11:g.129818824AC[9], NC_000003.11:g.129818824AC[10], NC_000003.11:g.129818824AC[11], NC_000003.11:g.129818824AC[12], NC_000003.11:g.129818824AC[13], NC_000003.11:g.129818824AC[14], NC_000003.11:g.129818824AC[15], NC_000003.11:g.129818824AC[16], NC_000003.11:g.129818824AC[17], NC_000003.11:g.129818824AC[18], NC_000003.11:g.129818824AC[19], NC_000003.11:g.129818824AC[20], NC_000003.11:g.129818824AC[21], NC_000003.11:g.129818824AC[22], NC_000003.11:g.129818824AC[23], NC_000003.11:g.129818824AC[24], NC_000003.11:g.129818824AC[25], NC_000003.11:g.129818824AC[27], NC_000003.11:g.129818824AC[28], NC_000003.11:g.129818824AC[29], NC_000003.11:g.129818824AC[30], NC_000003.11:g.129818824AC[31], NC_000003.11:g.129818824AC[32], NC_000003.11:g.129818824AC[33], NC_000003.11:g.129818824AC[34]
10.
rs1489717096 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 3:130097777
(GRCh38)
3:129816620
(GRCh37)
- Canonical SPDI:
- NC_000003.12:130097776:G:A,NC_000003.12:130097776:G:C
- Gene:
- ALG1L2 (Varview), FAM86HP (Varview)
- Functional Consequence:
- intron_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
A=0.006405/107
(TOMMO)
A=0.007187/21
(KOREAN)
- HGVS:
11.
rs1489448175 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 3:130101453
(GRCh38)
3:129820296
(GRCh37)
- Canonical SPDI:
- NC_000003.12:130101452:A:C
- Gene:
- FAM86HP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.0043/51
(
ALFA)
C=0.00392/60
(GnomAD)
C=0.00454/63
(TOMMO)
A=0.5/15
(SGDP_PRJ)
- HGVS:
13.
rs1489077790 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 3:130111612
(GRCh38)
3:129830455
(GRCh37)
- Canonical SPDI:
- NC_000003.12:130111611:G:A
- Gene:
- FAM86HP (Varview), LINC02021 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000043/6
(GnomAD)
- HGVS:
14.
rs1489076236 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 3:130105106
(GRCh38)
3:129823949
(GRCh37)
- Canonical SPDI:
- NC_000003.12:130105105:C:T
- Gene:
- FAM86HP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
T=0.000342/1
(KOREAN)
- HGVS:
15.
rs1489059694 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 3:130101469
(GRCh38)
3:129820312
(GRCh37)
- Canonical SPDI:
- NC_000003.12:130101468:A:C
- Gene:
- FAM86HP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000061/1
(
ALFA)
C=0.000068/8
(GnomAD)
C=0.001567/25
(TOMMO)
C=0.019507/57
(KOREAN)
A=0.5/1
(SGDP_PRJ)
- HGVS:
16.
rs1488851602 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 3:130101995
(GRCh38)
3:129820838
(GRCh37)
- Canonical SPDI:
- NC_000003.12:130101994:C:G
- Gene:
- FAM86HP (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:
17.
rs1488845593 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 3:130102193
(GRCh38)
3:129821036
(GRCh37)
- Canonical SPDI:
- NC_000003.12:130102192:C:T
- Gene:
- FAM86HP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000021/3
(GnomAD)
T=0.000034/9
(TOPMED)
- HGVS:
18.
rs1488809351 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 3:130111238
(GRCh38)
3:129830081
(GRCh37)
- Canonical SPDI:
- NC_000003.12:130111237:C:T
- Gene:
- FAM86HP (Varview), LINC02021 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
19.
rs1488749206 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 3:130111048
(GRCh38)
3:129829891
(GRCh37)
- Canonical SPDI:
- NC_000003.12:130111047:C:T
- Gene:
- FAM86HP (Varview), LINC02021 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000021/3
(GnomAD)
- HGVS:
20.
rs1488523867 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TGGGAGGCCGGT
[Show Flanks]
- Chromosome:
- 3:130112192
(GRCh38)
3:129831036
(GRCh37)
- Canonical SPDI:
- NC_000003.12:130112192:TGGGAGGCCGGT:TGGGAGGCCGGTTGGGAGGCCGGT
- Gene:
- FAM86HP (Varview), LINC02021 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
TGGGAGGCCGGTTGGGAGGCCGGT=0./0
(
ALFA)
- HGVS: