Links from Gene
Items: 1 to 20 of 1503
1.
rs1491583375 has merged into rs138023031 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GG>-,G,GGG,GGGG,GGGGG,GGGGGG,GGGGGGG,GGGGGGGG
[Show Flanks]
- Chromosome:
- 16:71515690
(GRCh38)
16:71549593
(GRCh37)
- Canonical SPDI:
- NC_000016.10:71515682:GGGGGGGGG:GGGGGGG,NC_000016.10:71515682:GGGGGGGGG:GGGGGGGG,NC_000016.10:71515682:GGGGGGGGG:GGGGGGGGGG,NC_000016.10:71515682:GGGGGGGGG:GGGGGGGGGGG,NC_000016.10:71515682:GGGGGGGGG:GGGGGGGGGGGG,NC_000016.10:71515682:GGGGGGGGG:GGGGGGGGGGGGG,NC_000016.10:71515682:GGGGGGGGG:GGGGGGGGGGGGGG,NC_000016.10:71515682:GGGGGGGGG:GGGGGGGGGGGGGGG
- Gene:
- LOC105371335 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000016.10:g.71515690_71515691del, NC_000016.10:g.71515691del, NC_000016.10:g.71515691dup, NC_000016.10:g.71515690_71515691dup, NC_000016.10:g.71515689_71515691dup, NC_000016.10:g.71515688_71515691dup, NC_000016.10:g.71515687_71515691dup, NC_000016.10:g.71515686_71515691dup, NC_000016.9:g.71549593_71549594del, NC_000016.9:g.71549594del, NC_000016.9:g.71549594dup, NC_000016.9:g.71549593_71549594dup, NC_000016.9:g.71549592_71549594dup, NC_000016.9:g.71549591_71549594dup, NC_000016.9:g.71549590_71549594dup, NC_000016.9:g.71549589_71549594dup
3.
rs1491115432 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C,T
[Show Flanks]
- Chromosome:
- 16:71515683
(GRCh38)
16:71549587
(GRCh37)
- Canonical SPDI:
- NC_000016.10:71515683::C,NC_000016.10:71515683::T
- Gene:
- LOC105371335 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
4.
rs1491106480 has merged into rs57902389 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAA>-,AA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 16:71516851
(GRCh38)
16:71550754
(GRCh37)
- Canonical SPDI:
- NC_000016.10:71516845:AAAAAAAAAAAAAAAAA:AAAAA,NC_000016.10:71516845:AAAAAAAAAAAAAAAAA:AAAAAAA,NC_000016.10:71516845:AAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000016.10:71516845:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000016.10:71516845:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000016.10:71516845:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000016.10:71516845:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000016.10:71516845:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000016.10:71516845:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000016.10:71516845:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000016.10:71516845:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
- Gene:
- LOC105371335 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAA=0./0
(
ALFA)
-=0.4155/2081
(1000Genomes)
- HGVS:
NC_000016.10:g.71516851_71516862del, NC_000016.10:g.71516853_71516862del, NC_000016.10:g.71516856_71516862del, NC_000016.10:g.71516857_71516862del, NC_000016.10:g.71516858_71516862del, NC_000016.10:g.71516859_71516862del, NC_000016.10:g.71516860_71516862del, NC_000016.10:g.71516861_71516862del, NC_000016.10:g.71516862del, NC_000016.10:g.71516862dup, NC_000016.10:g.71516861_71516862dup, NC_000016.9:g.71550754_71550765del, NC_000016.9:g.71550756_71550765del, NC_000016.9:g.71550759_71550765del, NC_000016.9:g.71550760_71550765del, NC_000016.9:g.71550761_71550765del, NC_000016.9:g.71550762_71550765del, NC_000016.9:g.71550763_71550765del, NC_000016.9:g.71550764_71550765del, NC_000016.9:g.71550765del, NC_000016.9:g.71550765dup, NC_000016.9:g.71550764_71550765dup
5.
rs1491011986 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 16:71516861
(GRCh38)
16:71550765
(GRCh37)
- Canonical SPDI:
- NC_000016.10:71516861::G
- Gene:
- LOC105371335 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000015/2
(GnomAD)
- HGVS:
7.
rs1490222618 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 16:71513851
(GRCh38)
16:71547754
(GRCh37)
- Canonical SPDI:
- NC_000016.10:71513850:A:G
- Gene:
- LOC105371335 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000023/6
(TOPMED)
- HGVS:
8.
rs1489571135 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 16:71516414
(GRCh38)
16:71550317
(GRCh37)
- Canonical SPDI:
- NC_000016.10:71516413:G:A
- Gene:
- LOC105371335 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000084/1
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
9.
rs1489508801 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 16:71513161
(GRCh38)
16:71547064
(GRCh37)
- Canonical SPDI:
- NC_000016.10:71513160:A:T
- Gene:
- LOC105371335 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
10.
rs1489399599 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 16:71513925
(GRCh38)
16:71547828
(GRCh37)
- Canonical SPDI:
- NC_000016.10:71513924:C:G
- Gene:
- LOC105371335 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
11.
rs1488198534 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 16:71518194
(GRCh38)
16:71552097
(GRCh37)
- Canonical SPDI:
- NC_000016.10:71518193:T:A
- Gene:
- LOC105371335 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency
- MAF:
A=0.000007/1
(GnomAD)
- HGVS:
12.
rs1487866082 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 16:71512230
(GRCh38)
16:71546133
(GRCh37)
- Canonical SPDI:
- NC_000016.10:71512229:T:A
- Gene:
- LOC105371335 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000023/6
(TOPMED)
A=0.000036/5
(GnomAD)
- HGVS:
13.
rs1486972900 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 16:71518280
(GRCh38)
16:71552183
(GRCh37)
- Canonical SPDI:
- NC_000016.10:71518279:A:T
- Gene:
- LOC105371335 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_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.
rs1486769394 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 16:71512068
(GRCh38)
16:71545971
(GRCh37)
- Canonical SPDI:
- NC_000016.10:71512067:T:G
- Gene:
- LOC105371335 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
G=0.000023/6
(TOPMED)
- HGVS:
15.
rs1486239111 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 16:71516387
(GRCh38)
16:71550290
(GRCh37)
- Canonical SPDI:
- NC_000016.10:71516386:T:C
- Gene:
- LOC105371335 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
16.
rs1484287101 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:71514553
(GRCh38)
16:71548456
(GRCh37)
- Canonical SPDI:
- NC_000016.10:71514552:C:T
- Gene:
- LOC105371335 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
T=0.000007/1
(GnomAD)
- HGVS:
17.
rs1483728235 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 16:71514492
(GRCh38)
16:71548395
(GRCh37)
- Canonical SPDI:
- NC_000016.10:71514491:A:G
- Gene:
- LOC105371335 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
18.
rs1483285604 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 16:71514627
(GRCh38)
16:71548530
(GRCh37)
- Canonical SPDI:
- NC_000016.10:71514626:T:C
- Gene:
- LOC105371335 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.00003/8
(TOPMED)
C=0.000057/8
(GnomAD)
- HGVS:
20.
rs1482615898 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 16:71512543
(GRCh38)
16:71546446
(GRCh37)
- Canonical SPDI:
- NC_000016.10:71512542:C:A
- Gene:
- LOC105371335 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS: