Links from Gene
Items: 1 to 20 of 5040
2.
rs1491328748 has merged into rs59491712 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTT>-,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 2:26572360
(GRCh38)
2:26795228
(GRCh37)
- Canonical SPDI:
- NC_000002.12:26572349:TTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:26572349:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:26572349:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:26572349:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:26572349:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:26572349:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:26572349:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:26572349:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:26572349:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26572349:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26572349:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26572349:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26572349:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26572349:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26572349:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26572349:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26572349:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26572349:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- FAM166C (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTT=0./0
(
ALFA)
T=0.0218/81
(TWINSUK)
T=0.0246/95
(ALSPAC)
-=0.4659/2333
(1000Genomes)
- HGVS:
NC_000002.12:g.26572360_26572364del, NC_000002.12:g.26572362_26572364del, NC_000002.12:g.26572363_26572364del, NC_000002.12:g.26572364del, NC_000002.12:g.26572364dup, NC_000002.12:g.26572363_26572364dup, NC_000002.12:g.26572362_26572364dup, NC_000002.12:g.26572361_26572364dup, NC_000002.12:g.26572359_26572364dup, NC_000002.12:g.26572357_26572364dup, NC_000002.12:g.26572356_26572364dup, NC_000002.12:g.26572354_26572364dup, NC_000002.12:g.26572353_26572364dup, NC_000002.12:g.26572352_26572364dup, NC_000002.12:g.26572350_26572364dup, NC_000002.12:g.26572364_26572365insTTTTTTTTTTTTTTTT, NC_000002.12:g.26572364_26572365insTTTTTTTTTTTTTTTTTT, NC_000002.12:g.26572364_26572365insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.26795228_26795232del, NC_000002.11:g.26795230_26795232del, NC_000002.11:g.26795231_26795232del, NC_000002.11:g.26795232del, NC_000002.11:g.26795232dup, NC_000002.11:g.26795231_26795232dup, NC_000002.11:g.26795230_26795232dup, NC_000002.11:g.26795229_26795232dup, NC_000002.11:g.26795227_26795232dup, NC_000002.11:g.26795225_26795232dup, NC_000002.11:g.26795224_26795232dup, NC_000002.11:g.26795222_26795232dup, NC_000002.11:g.26795221_26795232dup, NC_000002.11:g.26795220_26795232dup, NC_000002.11:g.26795218_26795232dup, NC_000002.11:g.26795232_26795233insTTTTTTTTTTTTTTTT, NC_000002.11:g.26795232_26795233insTTTTTTTTTTTTTTTTTT, NC_000002.11:g.26795232_26795233insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
3.
rs1491177536 has merged into rs3069539 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAA>-,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 2:26569021
(GRCh38)
2:26791889
(GRCh37)
- Canonical SPDI:
- NC_000002.12:26569016:AAAAAAAAAAAAAAA:AAAA,NC_000002.12:26569016:AAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:26569016:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:26569016:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:26569016:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:26569016:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:26569016:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:26569016:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
- Gene:
- FAM166C (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAA=0./0
(
ALFA)
-=0.2005/1004
(1000Genomes)
- HGVS:
NC_000002.12:g.26569021_26569031del, NC_000002.12:g.26569027_26569031del, NC_000002.12:g.26569028_26569031del, NC_000002.12:g.26569029_26569031del, NC_000002.12:g.26569030_26569031del, NC_000002.12:g.26569031del, NC_000002.12:g.26569031dup, NC_000002.12:g.26569030_26569031dup, NC_000002.11:g.26791889_26791899del, NC_000002.11:g.26791895_26791899del, NC_000002.11:g.26791896_26791899del, NC_000002.11:g.26791897_26791899del, NC_000002.11:g.26791898_26791899del, NC_000002.11:g.26791899del, NC_000002.11:g.26791899dup, NC_000002.11:g.26791898_26791899dup
4.
rs1490931072 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:26581191
(GRCh38)
2:26804059
(GRCh37)
- Canonical SPDI:
- NC_000002.12:26581190:A:G
- Gene:
- CIB4 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
5.
rs1490913417 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 2:26575624
(GRCh38)
2:26798492
(GRCh37)
- Canonical SPDI:
- NC_000002.12:26575623:C:G
- Gene:
- FAM166C (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000014/2
(GnomAD)
G=0.000015/4
(TOPMED)
- HGVS:
6.
rs1490652813 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:26561043
(GRCh38)
2:26783911
(GRCh37)
- Canonical SPDI:
- NC_000002.12:26561042:G:A
- Gene:
- FAM166C (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000224/1
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000223/1
(Estonian)
- HGVS:
7.
rs1489936099 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:26577408
(GRCh38)
2:26800276
(GRCh37)
- Canonical SPDI:
- NC_000002.12:26577407:G:A
- Gene:
- FAM166C (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000021/3
(GnomAD)
- HGVS:
8.
rs1489861315 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 2:26572188
(GRCh38)
2:26795056
(GRCh37)
- Canonical SPDI:
- NC_000002.12:26572187:A:C
- Gene:
- FAM166C (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.03617/429
(
ALFA)
C=0.00064/18
(TOMMO)
C=0.00616/18
(KOREAN)
C=0.03002/55
(Korea1K)
- HGVS:
9.
rs1489788534 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 2:26567744
(GRCh38)
2:26790612
(GRCh37)
- Canonical SPDI:
- NC_000002.12:26567743:TT:T
- Gene:
- FAM166C (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
TT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
10.
rs1489408637 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CCCACC>-
[Show Flanks]
- Chromosome:
- 2:26575885
(GRCh38)
2:26798753
(GRCh37)
- Canonical SPDI:
- NC_000002.12:26575879:CCACCCCCACC:CCACC
- Gene:
- FAM166C (Varview)
- Functional Consequence:
- inframe_deletion,intron_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa
- MAF:
CCACC=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
11.
rs1489391129 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 2:26562634
(GRCh38)
2:26785502
(GRCh37)
- Canonical SPDI:
- NC_000002.12:26562633:A:T
- Gene:
- FAM166C (Varview)
- Functional Consequence:
- coding_sequence_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,missense_variant,non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
T=0.000005/1
(GnomAD_exomes)
- HGVS:
NC_000002.12:g.26562634A>T, NC_000002.11:g.26785502A>T, NG_009937.1:g.1065T>A, XM_011532810.3:c.-207A>T, XM_011532810.2:c.-207A>T, XM_011532810.1:c.-207A>T, NM_001105519.3:c.22A>T, NM_001105519.2:c.22A>T, NM_001105519.1:c.22A>T, XM_017003966.2:c.-207A>T, XM_017003966.1:c.-207A>T, XM_017003962.2:c.-53A>T, XM_017003962.1:c.-53A>T, XM_017003963.2:c.-19A>T, XM_017003963.1:c.-19A>T, XM_017003964.2:c.-53A>T, XM_017003964.1:c.-53A>T, XM_017003965.2:c.-53A>T, XM_017003965.1:c.-53A>T, NM_001322426.2:c.-53A>T, NM_001322426.1:c.-53A>T, XR_007073116.1:n.48A>T, XM_047444117.1:c.-210A>T, NP_001098989.1:p.Thr8Ser
13.
rs1489276258 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- 2:26564801
(GRCh38)
2:26787669
(GRCh37)
- Canonical SPDI:
- NC_000002.12:26564800:A:
- Gene:
- FAM166C (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000083/22
(TOPMED)
-=0.000156/1
(1000Genomes)
-=0.000546/1
(Korea1K)
-=0.000672/11
(TOMMO)
-=0.004673/1
(Vietnamese)
- HGVS:
14.
rs1489120410 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:26579808
(GRCh38)
2:26802676
(GRCh37)
- Canonical SPDI:
- NC_000002.12:26579807:A:G
- Gene:
- FAM166C (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
15.
rs1488933858 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 2:26579318
(GRCh38)
2:26802186
(GRCh37)
- Canonical SPDI:
- NC_000002.12:26579317:G:C
- Gene:
- FAM166C (Varview)
- Functional Consequence:
- non_coding_transcript_variant,missense_variant,3_prime_UTR_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa
- MAF:
- HGVS:
NC_000002.12:g.26579318G>C, NC_000002.11:g.26802186G>C, XM_011532811.3:c.501G>C, XM_011532811.2:c.501G>C, XM_011532811.1:c.501G>C, XM_011532810.3:c.501G>C, XM_011532810.2:c.501G>C, XM_011532810.1:c.501G>C, NM_001105519.3:c.486G>C, NM_001105519.2:c.486G>C, NM_001105519.1:c.486G>C, XM_017003966.2:c.*74G>C, XM_017003966.1:c.*74G>C, XM_017003962.2:c.588G>C, XM_017003962.1:c.588G>C, XM_017003963.2:c.576G>C, XM_017003963.1:c.576G>C, XM_017003964.2:c.525G>C, XM_017003964.1:c.525G>C, XM_017003965.2:c.511G>C, XM_017003965.1:c.511G>C, NM_001322426.2:c.448G>C, NM_001322426.1:c.448G>C, XR_007073116.1:n.1737G>C, XM_047444118.1:c.318G>C, XM_047444117.1:c.318G>C, XP_011531113.1:p.Lys167Asn, XP_011531112.1:p.Lys167Asn, NP_001098989.1:p.Lys162Asn, XP_016859451.1:p.Lys196Asn, XP_016859452.1:p.Lys192Asn, XP_016859453.1:p.Lys175Asn, XP_016859454.1:p.Val171Leu, NP_001309355.1:p.Val150Leu, XP_047300074.1:p.Lys106Asn, XP_047300073.1:p.Lys106Asn
16.
rs1488386711 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:26573972
(GRCh38)
2:26796840
(GRCh37)
- Canonical SPDI:
- NC_000002.12:26573971:C:T
- Gene:
- FAM166C (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000029/4
(GnomAD)
T=0.000038/10
(TOPMED)
- HGVS:
17.
rs1488305122 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:26565727
(GRCh38)
2:26788595
(GRCh37)
- Canonical SPDI:
- NC_000002.12:26565726:G:A
- Gene:
- FAM166C (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
18.
rs1488086235 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:26565257
(GRCh38)
2:26788125
(GRCh37)
- Canonical SPDI:
- NC_000002.12:26565256:A:G
- Gene:
- FAM166C (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
19.
rs1488025835 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,G
[Show Flanks]
- Chromosome:
- 2:26574441
(GRCh38)
2:26797309
(GRCh37)
- Canonical SPDI:
- NC_000002.12:26574440:T:A,NC_000002.12:26574440:T:G
- Gene:
- FAM166C (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
A=0.000015/2
(GnomAD)
- HGVS:
20.
rs1487979968 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 2:26570028
(GRCh38)
2:26792896
(GRCh37)
- Canonical SPDI:
- NC_000002.12:26570027:G:T
- Gene:
- FAM166C (Varview)
- Functional Consequence:
- 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: