Links from Gene
Items: 1 to 20 of 1000
1.
rs1491456187 has merged into rs34069417 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTAATCATTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTATGCATTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 1:84302348
(GRCh38)
1:84768031
(GRCh37)
- Canonical SPDI:
- NC_000001.11:84302337:TTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:84302337:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:84302337:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:84302337:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:84302337:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:84302337:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:84302337:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:84302337:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:84302337:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:84302337:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:84302337:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:84302337:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTAATCATTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:84302337:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTATGCATTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:84302337:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:84302337:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:84302337:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:84302337:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:84302337:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:84302337:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:84302337:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:84302337:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- SAMD13 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTT=0./0
(
ALFA)
T=0.2532/1268
(1000Genomes)
- HGVS:
NC_000001.11:g.84302348_84302355del, NC_000001.11:g.84302349_84302355del, NC_000001.11:g.84302350_84302355del, NC_000001.11:g.84302351_84302355del, NC_000001.11:g.84302352_84302355del, NC_000001.11:g.84302353_84302355del, NC_000001.11:g.84302354_84302355del, NC_000001.11:g.84302355del, NC_000001.11:g.84302355dup, NC_000001.11:g.84302354_84302355dup, NC_000001.11:g.84302353_84302355dup, NC_000001.11:g.84302338_84302355T[21]AATCATTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000001.11:g.84302338_84302355T[21]ATGCATTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000001.11:g.84302338_84302355T[22]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000001.11:g.84302351_84302355dup, NC_000001.11:g.84302350_84302355dup, NC_000001.11:g.84302349_84302355dup, NC_000001.11:g.84302342_84302355dup, NC_000001.11:g.84302339_84302355dup, NC_000001.11:g.84302355_84302356insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.84302355_84302356insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.84768031_84768038del, NC_000001.10:g.84768032_84768038del, NC_000001.10:g.84768033_84768038del, NC_000001.10:g.84768034_84768038del, NC_000001.10:g.84768035_84768038del, NC_000001.10:g.84768036_84768038del, NC_000001.10:g.84768037_84768038del, NC_000001.10:g.84768038del, NC_000001.10:g.84768038dup, NC_000001.10:g.84768037_84768038dup, NC_000001.10:g.84768036_84768038dup, NC_000001.10:g.84768021_84768038T[21]AATCATTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000001.10:g.84768021_84768038T[21]ATGCATTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000001.10:g.84768021_84768038T[22]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000001.10:g.84768034_84768038dup, NC_000001.10:g.84768033_84768038dup, NC_000001.10:g.84768032_84768038dup, NC_000001.10:g.84768025_84768038dup, NC_000001.10:g.84768022_84768038dup, NC_000001.10:g.84768038_84768039insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.84768038_84768039insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
2.
rs1491267057 has merged into rs201864672 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 1:84338444
(GRCh38)
1:84804127
(GRCh37)
- Canonical SPDI:
- NC_000001.11:84338432:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:84338432:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:84338432:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:84338432:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:84338432:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:84338432:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:84338432:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:84338432:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:84338432:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:84338432:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:84338432:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:84338432:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:84338432:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:84338432:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:84338432:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:84338432:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:84338432:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:84338432:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:84338432:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- SAMD13 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTT=0./0
(
ALFA)
-=0.0721/361
(1000Genomes)
-=0.475/19
(GENOME_DK)
- HGVS:
NC_000001.11:g.84338444_84338455del, NC_000001.11:g.84338445_84338455del, NC_000001.11:g.84338446_84338455del, NC_000001.11:g.84338447_84338455del, NC_000001.11:g.84338448_84338455del, NC_000001.11:g.84338449_84338455del, NC_000001.11:g.84338450_84338455del, NC_000001.11:g.84338451_84338455del, NC_000001.11:g.84338452_84338455del, NC_000001.11:g.84338453_84338455del, NC_000001.11:g.84338454_84338455del, NC_000001.11:g.84338455del, NC_000001.11:g.84338455dup, NC_000001.11:g.84338454_84338455dup, NC_000001.11:g.84338453_84338455dup, NC_000001.11:g.84338452_84338455dup, NC_000001.11:g.84338451_84338455dup, NC_000001.11:g.84338434_84338455dup, NC_000001.11:g.84338455_84338456insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.84804127_84804138del, NC_000001.10:g.84804128_84804138del, NC_000001.10:g.84804129_84804138del, NC_000001.10:g.84804130_84804138del, NC_000001.10:g.84804131_84804138del, NC_000001.10:g.84804132_84804138del, NC_000001.10:g.84804133_84804138del, NC_000001.10:g.84804134_84804138del, NC_000001.10:g.84804135_84804138del, NC_000001.10:g.84804136_84804138del, NC_000001.10:g.84804137_84804138del, NC_000001.10:g.84804138del, NC_000001.10:g.84804138dup, NC_000001.10:g.84804137_84804138dup, NC_000001.10:g.84804136_84804138dup, NC_000001.10:g.84804135_84804138dup, NC_000001.10:g.84804134_84804138dup, NC_000001.10:g.84804117_84804138dup, NC_000001.10:g.84804138_84804139insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
4.
rs1491164802 has merged into rs869106861 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T
[Show Flanks]
- Chromosome:
- 1:84299677
(GRCh38)
1:84765360
(GRCh37)
- Canonical SPDI:
- NC_000001.11:84299675:TTT:T,NC_000001.11:84299675:TTT:TT
- Gene:
- SAMD13 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.030554/499
(
ALFA)
-=0.035201/4299
(GnomAD)
-=0.063333/38
(NorthernSweden)
-=0.069287/171
(ExAC)
-=0.131877/489
(TWINSUK)
-=0.13259/511
(ALSPAC)
- HGVS:
5.
rs1491045495 has merged into rs386367519 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 1:84306660
(GRCh38)
1:84772343
(GRCh37)
- Canonical SPDI:
- NC_000001.11:84306644:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:84306644:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:84306644:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:84306644:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:84306644:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:84306644:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:84306644:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:84306644:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:84306644:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:84306644:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:84306644:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:84306644:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:84306644:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:84306644:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- SAMD13 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.45/18
(GENOME_DK)
- HGVS:
NC_000001.11:g.84306660_84306663del, NC_000001.11:g.84306661_84306663del, NC_000001.11:g.84306662_84306663del, NC_000001.11:g.84306663del, NC_000001.11:g.84306663dup, NC_000001.11:g.84306662_84306663dup, NC_000001.11:g.84306661_84306663dup, NC_000001.11:g.84306660_84306663dup, NC_000001.11:g.84306659_84306663dup, NC_000001.11:g.84306657_84306663dup, NC_000001.11:g.84306655_84306663dup, NC_000001.11:g.84306653_84306663dup, NC_000001.11:g.84306650_84306663dup, NC_000001.11:g.84306649_84306663dup, NC_000001.10:g.84772343_84772346del, NC_000001.10:g.84772344_84772346del, NC_000001.10:g.84772345_84772346del, NC_000001.10:g.84772346del, NC_000001.10:g.84772346dup, NC_000001.10:g.84772345_84772346dup, NC_000001.10:g.84772344_84772346dup, NC_000001.10:g.84772343_84772346dup, NC_000001.10:g.84772342_84772346dup, NC_000001.10:g.84772340_84772346dup, NC_000001.10:g.84772338_84772346dup, NC_000001.10:g.84772336_84772346dup, NC_000001.10:g.84772333_84772346dup, NC_000001.10:g.84772332_84772346dup
6.
rs1490862420 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:84296677
(GRCh38)
1:84762360
(GRCh37)
- Canonical SPDI:
- NC_000001.11:84296676:G:A
- Gene:
- SAMD13 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
7.
rs1490808302 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:84331513
(GRCh38)
1:84797196
(GRCh37)
- Canonical SPDI:
- NC_000001.11:84331512:G:A
- Gene:
- SAMD13 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
8.
rs1490779880 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:84296948
(GRCh38)
1:84762631
(GRCh37)
- Canonical SPDI:
- NC_000001.11:84296947:C:T
- Gene:
- SAMD13 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000084/1
(
ALFA)
T=0.000014/2
(GnomAD)
- HGVS:
9.
rs1490762640 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 1:84334349
(GRCh38)
1:84800032
(GRCh37)
- Canonical SPDI:
- NC_000001.11:84334348:G:T
- Gene:
- SAMD13 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000021/3
(GnomAD)
- HGVS:
10.
rs1490677630 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:84349374
(GRCh38)
1:84815057
(GRCh37)
- Canonical SPDI:
- NC_000001.11:84349373:G:A
- Gene:
- SAMD13 (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:
11.
rs1490616516 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 1:84298035
(GRCh38)
1:84763718
(GRCh37)
- Canonical SPDI:
- NC_000001.11:84298034:A:C
- Gene:
- SAMD13 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000071/1
(TOMMO)
C=0.000342/1
(KOREAN)
- HGVS:
12.
rs1490613501 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 1:84330150
(GRCh38)
1:84795833
(GRCh37)
- Canonical SPDI:
- NC_000001.11:84330149:C:A
- Gene:
- SAMD13 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
13.
rs1490574278 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 1:84347415
(GRCh38)
1:84813099
(GRCh37)
- Canonical SPDI:
- NC_000001.11:84347415:AAAA:AAAAA
- Gene:
- SAMD13 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
AAAAA=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
14.
rs1490473460 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:84305503
(GRCh38)
1:84771186
(GRCh37)
- Canonical SPDI:
- NC_000001.11:84305502:A:G
- Gene:
- SAMD13 (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:
15.
rs1490410260 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 1:84338943
(GRCh38)
1:84804626
(GRCh37)
- Canonical SPDI:
- NC_000001.11:84338942:G:C
- Gene:
- SAMD13 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000015/4
(TOPMED)
C=0.000036/5
(GnomAD)
- HGVS:
17.
rs1490371947 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- 1:84321157
(GRCh38)
1:84786840
(GRCh37)
- Canonical SPDI:
- NC_000001.11:84321156:AA:A
- Gene:
- SAMD13 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AA=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000011/3
(TOPMED)
- HGVS:
18.
rs1490357035 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 1:84322333
(GRCh38)
1:84788016
(GRCh37)
- Canonical SPDI:
- NC_000001.11:84322332:T:G
- Gene:
- SAMD13 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
19.
rs1490261251 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 1:84318046
(GRCh38)
1:84783729
(GRCh37)
- Canonical SPDI:
- NC_000001.11:84318045:T:G
- Gene:
- SAMD13 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000021/3
(GnomAD)
G=0.000023/6
(TOPMED)
- HGVS:
20.
rs1490207868 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 1:84320587
(GRCh38)
1:84786270
(GRCh37)
- Canonical SPDI:
- NC_000001.11:84320586:G:T
- Gene:
- SAMD13 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS: