Links from Gene
Items: 1 to 20 of 3389
1.
rs1491468305 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 16:9446663
(GRCh38)
16:9540520
(GRCh37)
- Canonical SPDI:
- NC_000016.10:9446661:TAT:T
- Gene:
- LOC101927026 (Varview), LINC01195 (Varview), LINC01177 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.0024/9
(TWINSUK)
-=0.0031/12
(ALSPAC)
- HGVS:
2.
rs1491305319 has merged into rs35137688 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 16:9450748
(GRCh38)
16:9544605
(GRCh37)
- Canonical SPDI:
- NC_000016.10:9450737:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000016.10:9450737:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000016.10:9450737:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000016.10:9450737:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000016.10:9450737:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000016.10:9450737:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:9450737:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000016.10:9450737:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:9450737:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000016.10:9450737:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000016.10:9450737:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000016.10:9450737:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000016.10:9450737:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:9450737:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:9450737:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:9450737:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:9450737:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:9450737:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:9450737:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:9450737:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:9450737:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:9450737:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:9450737:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:9450737:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:9450737:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:9450737:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:9450737:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:9450737:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:9450737:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:9450737:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:9450737:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:9450737:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- LOC101927026 (Varview), LINC01195 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
TTTTTTTTTTTTT=0.025/1
(GENOME_DK)
-=0.340655/1706
(1000Genomes)
- HGVS:
NC_000016.10:g.9450748_9450761del, NC_000016.10:g.9450749_9450761del, NC_000016.10:g.9450750_9450761del, NC_000016.10:g.9450751_9450761del, NC_000016.10:g.9450752_9450761del, NC_000016.10:g.9450753_9450761del, NC_000016.10:g.9450754_9450761del, NC_000016.10:g.9450755_9450761del, NC_000016.10:g.9450756_9450761del, NC_000016.10:g.9450757_9450761del, NC_000016.10:g.9450758_9450761del, NC_000016.10:g.9450759_9450761del, NC_000016.10:g.9450760_9450761del, NC_000016.10:g.9450761del, NC_000016.10:g.9450761dup, NC_000016.10:g.9450760_9450761dup, NC_000016.10:g.9450759_9450761dup, NC_000016.10:g.9450758_9450761dup, NC_000016.10:g.9450757_9450761dup, NC_000016.10:g.9450756_9450761dup, NC_000016.10:g.9450755_9450761dup, NC_000016.10:g.9450754_9450761dup, NC_000016.10:g.9450753_9450761dup, NC_000016.10:g.9450752_9450761dup, NC_000016.10:g.9450751_9450761dup, NC_000016.10:g.9450750_9450761dup, NC_000016.10:g.9450749_9450761dup, NC_000016.10:g.9450761_9450762insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.9450761_9450762insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.9450761_9450762insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.9450761_9450762insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.9450761_9450762insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.9544605_9544618del, NC_000016.9:g.9544606_9544618del, NC_000016.9:g.9544607_9544618del, NC_000016.9:g.9544608_9544618del, NC_000016.9:g.9544609_9544618del, NC_000016.9:g.9544610_9544618del, NC_000016.9:g.9544611_9544618del, NC_000016.9:g.9544612_9544618del, NC_000016.9:g.9544613_9544618del, NC_000016.9:g.9544614_9544618del, NC_000016.9:g.9544615_9544618del, NC_000016.9:g.9544616_9544618del, NC_000016.9:g.9544617_9544618del, NC_000016.9:g.9544618del, NC_000016.9:g.9544618dup, NC_000016.9:g.9544617_9544618dup, NC_000016.9:g.9544616_9544618dup, NC_000016.9:g.9544615_9544618dup, NC_000016.9:g.9544614_9544618dup, NC_000016.9:g.9544613_9544618dup, NC_000016.9:g.9544612_9544618dup, NC_000016.9:g.9544611_9544618dup, NC_000016.9:g.9544610_9544618dup, NC_000016.9:g.9544609_9544618dup, NC_000016.9:g.9544608_9544618dup, NC_000016.9:g.9544607_9544618dup, NC_000016.9:g.9544606_9544618dup, NC_000016.9:g.9544618_9544619insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.9544618_9544619insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.9544618_9544619insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.9544618_9544619insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.9544618_9544619insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
3.
rs1491267629 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 16:9449754
(GRCh38)
16:9543612
(GRCh37)
- Canonical SPDI:
- NC_000016.10:9449754::G
- Gene:
- LOC101927026 (Varview), LINC01195 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000099/3
(GnomAD)
- HGVS:
4.
rs1491172186 has merged into rs34874780 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTT>-,T,TT,TTTT,TTTTT
[Show Flanks]
- Chromosome:
- 16:9449762
(GRCh38)
16:9543619
(GRCh37)
- Canonical SPDI:
- NC_000016.10:9449753:TTTTTTTTTTT:TTTTTTTT,NC_000016.10:9449753:TTTTTTTTTTT:TTTTTTTTT,NC_000016.10:9449753:TTTTTTTTTTT:TTTTTTTTTT,NC_000016.10:9449753:TTTTTTTTTTT:TTTTTTTTTTTT,NC_000016.10:9449753:TTTTTTTTTTT:TTTTTTTTTTTTT
- Gene:
- LOC101927026 (Varview), LINC01195 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTT=0./0
(
ALFA)
T=0.437773/802
(Korea1K)
T=0.442398/1705
(ALSPAC)
T=0.442826/1642
(TWINSUK)
T=0.445487/2231
(1000Genomes)
T=0.45/18
(GENOME_DK)
T=0.461419/122133
(TOPMED)
T=0.481667/289
(NorthernSweden)
T=0.489065/8197
(TOMMO)
- HGVS:
NC_000016.10:g.9449762_9449764del, NC_000016.10:g.9449763_9449764del, NC_000016.10:g.9449764del, NC_000016.10:g.9449764dup, NC_000016.10:g.9449763_9449764dup, NC_000016.9:g.9543619_9543621del, NC_000016.9:g.9543620_9543621del, NC_000016.9:g.9543621del, NC_000016.9:g.9543621dup, NC_000016.9:g.9543620_9543621dup, NR_126349.1:n.163_165del, NR_126349.1:n.164_165del, NR_126349.1:n.165del, NR_126349.1:n.165dup, NR_126349.1:n.164_165dup
5.
rs1490824724 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 16:9450217
(GRCh38)
16:9544074
(GRCh37)
- Canonical SPDI:
- NC_000016.10:9450216:A:C
- Gene:
- LOC101927026 (Varview), LINC01195 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
6.
rs1490799521 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 16:9449391
(GRCh38)
16:9543248
(GRCh37)
- Canonical SPDI:
- NC_000016.10:9449390:G:A
- Gene:
- LOC101927026 (Varview), LINC01195 (Varview)
- Functional Consequence:
- intron_variant,genic_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)
- HGVS:
7.
rs1490754425 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 16:9447501
(GRCh38)
16:9541358
(GRCh37)
- Canonical SPDI:
- NC_000016.10:9447500:C:A
- Gene:
- LOC101927026 (Varview), LINC01195 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000019/5
(TOPMED)
- HGVS:
8.
rs1490683331 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 16:9445685
(GRCh38)
16:9539542
(GRCh37)
- Canonical SPDI:
- NC_000016.10:9445684:A:G
- Gene:
- LOC101927026 (Varview), LINC01195 (Varview), LINC01177 (Varview)
- Functional Consequence:
- 500B_downstream_variant,intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000054/1
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
G=0.000223/1
(Estonian)
- HGVS:
9.
rs1490645949 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C,T
[Show Flanks]
- Chromosome:
- 16:9450496
(GRCh38)
16:9544353
(GRCh37)
- Canonical SPDI:
- NC_000016.10:9450495:G:C,NC_000016.10:9450495:G:T
- Gene:
- LOC101927026 (Varview), LINC01195 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
10.
rs1490634957 has merged into rs34874780 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTT>-,T,TT,TTTT,TTTTT
[Show Flanks]
- Chromosome:
- 16:9449762
(GRCh38)
16:9543619
(GRCh37)
- Canonical SPDI:
- NC_000016.10:9449753:TTTTTTTTTTT:TTTTTTTT,NC_000016.10:9449753:TTTTTTTTTTT:TTTTTTTTT,NC_000016.10:9449753:TTTTTTTTTTT:TTTTTTTTTT,NC_000016.10:9449753:TTTTTTTTTTT:TTTTTTTTTTTT,NC_000016.10:9449753:TTTTTTTTTTT:TTTTTTTTTTTTT
- Gene:
- LOC101927026 (Varview), LINC01195 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTT=0./0
(
ALFA)
T=0.437773/802
(Korea1K)
T=0.442398/1705
(ALSPAC)
T=0.442826/1642
(TWINSUK)
T=0.445487/2231
(1000Genomes)
T=0.45/18
(GENOME_DK)
T=0.461419/122133
(TOPMED)
T=0.481667/289
(NorthernSweden)
T=0.489065/8197
(TOMMO)
- HGVS:
NC_000016.10:g.9449762_9449764del, NC_000016.10:g.9449763_9449764del, NC_000016.10:g.9449764del, NC_000016.10:g.9449764dup, NC_000016.10:g.9449763_9449764dup, NC_000016.9:g.9543619_9543621del, NC_000016.9:g.9543620_9543621del, NC_000016.9:g.9543621del, NC_000016.9:g.9543621dup, NC_000016.9:g.9543620_9543621dup, NR_126349.1:n.163_165del, NR_126349.1:n.164_165del, NR_126349.1:n.165del, NR_126349.1:n.165dup, NR_126349.1:n.164_165dup
12.
rs1490291999 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 16:9456475
(GRCh38)
16:9550332
(GRCh37)
- Canonical SPDI:
- NC_000016.10:9456474:T:G
- Gene:
- LOC101927026 (Varview), LINC01195 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
13.
rs1490266287 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:9455683
(GRCh38)
16:9549540
(GRCh37)
- Canonical SPDI:
- NC_000016.10:9455682:C:T
- Gene:
- LOC101927026 (Varview), LINC01195 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
14.
rs1489938777 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- 16:9446651
(GRCh38)
16:9540508
(GRCh37)
- Canonical SPDI:
- NC_000016.10:9446650:A:
- Gene:
- LOC101927026 (Varview), LINC01195 (Varview), LINC01177 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.00029/7
(GnomAD)
- HGVS:
15.
rs1489827348 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 16:9450805
(GRCh38)
16:9544662
(GRCh37)
- Canonical SPDI:
- NC_000016.10:9450804:G:A
- Gene:
- LOC101927026 (Varview), LINC01195 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000071/1
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
16.
rs1489533555 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 16:9451041
(GRCh38)
16:9544898
(GRCh37)
- Canonical SPDI:
- NC_000016.10:9451040:C:A,NC_000016.10:9451040:C:T
- Gene:
- LOC101927026 (Varview), LINC01195 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
T=0.00034/1
(KOREAN)
- HGVS:
17.
rs1489032239 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 16:9446038
(GRCh38)
16:9539895
(GRCh37)
- Canonical SPDI:
- NC_000016.10:9446037:G:A
- Gene:
- LOC101927026 (Varview), LINC01195 (Varview), LINC01177 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
18.
rs1488911470 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 16:9448225
(GRCh38)
16:9542082
(GRCh37)
- Canonical SPDI:
- NC_000016.10:9448224:A:T
- Gene:
- LOC101927026 (Varview), LINC01195 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
19.
rs1488731057 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 16:9457138
(GRCh38)
16:9550995
(GRCh37)
- Canonical SPDI:
- NC_000016.10:9457137:T:C
- Gene:
- LOC101927026 (Varview), LINC01195 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
20.
rs1488709063 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 16:9446418
(GRCh38)
16:9540275
(GRCh37)
- Canonical SPDI:
- NC_000016.10:9446417:G:A
- Gene:
- LOC101927026 (Varview), LINC01195 (Varview), LINC01177 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.00004/1
(TOMMO)
A=0.00055/1
(Korea1K)
- HGVS: