Links from Gene
Items: 1 to 20 of 1026
1.
rs1490884797 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 10:122911567
(GRCh38)
10:124671083
(GRCh37)
- Canonical SPDI:
- NC_000010.11:122911566:G:A
- Gene:
- FAM24A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
A=0.000015/4
(TOPMED)
- HGVS:
2.
rs1490445971 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 10:122912633
(GRCh38)
10:124672149
(GRCh37)
- Canonical SPDI:
- NC_000010.11:122912632:C:T
- Gene:
- FAM24A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
3.
rs1489145409 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 10:122912804
(GRCh38)
10:124672320
(GRCh37)
- Canonical SPDI:
- NC_000010.11:122912803:C:G
- Gene:
- FAM24A (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000016/4
(GnomAD_exomes)
- HGVS:
NC_000010.11:g.122912804C>G, NC_000010.10:g.124672320C>G, NM_001029888.3:c.168C>G, NM_001029888.2:c.168C>G, NM_001029888.1:c.168C>G, XM_017015639.2:c.168C>G, XM_017015639.1:c.168C>G, XM_017015638.2:c.168C>G, XM_017015638.1:c.168C>G, NP_001025059.1:p.Asn56Lys, XP_016871128.1:p.Asn56Lys, XP_016871127.1:p.Asn56Lys
4.
rs1488709683 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 10:122910484
(GRCh38)
10:124670000
(GRCh37)
- Canonical SPDI:
- NC_000010.11:122910483:A:G
- Gene:
- FAM24A (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000019/5
(TOPMED)
- HGVS:
5.
rs1488299732 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 10:122913140
(GRCh38)
10:124672656
(GRCh37)
- Canonical SPDI:
- NC_000010.11:122913139:A:G
- Gene:
- FAM24A (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
6.
rs1487952719 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 10:122911814
(GRCh38)
10:124671330
(GRCh37)
- Canonical SPDI:
- NC_000010.11:122911813:C:T
- Gene:
- FAM24A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
7.
rs1487623473 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 10:122910727
(GRCh38)
10:124670243
(GRCh37)
- Canonical SPDI:
- NC_000010.11:122910726:A:G
- Gene:
- FAM24A (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000029/4
(GnomAD)
- HGVS:
8.
rs1487097958 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CC
[Show Flanks]
- Chromosome:
- 10:122912161
(GRCh38)
10:124671678
(GRCh37)
- Canonical SPDI:
- NC_000010.11:122912161:CC:CCCC
- Gene:
- FAM24A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCCC=0./0
(
ALFA)
CC=0.000008/2
(TOPMED)
CC=0.000014/2
(GnomAD)
- HGVS:
9.
rs1487075448 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 10:122911090
(GRCh38)
10:124670606
(GRCh37)
- Canonical SPDI:
- NC_000010.11:122911089:G:A
- Gene:
- FAM24A (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:
10.
rs1485655672 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 10:122909320
(GRCh38)
10:124668836
(GRCh37)
- Canonical SPDI:
- NC_000010.11:122909319:T:C
- Gene:
- FAM24A (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
13.
rs1480718976 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->GG
[Show Flanks]
- Chromosome:
- 10:122909047
(GRCh38)
10:124668564
(GRCh37)
- Canonical SPDI:
- NC_000010.11:122909047::GG
- Gene:
- FAM24A (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency
- MAF:
GG=0.000078/11
(GnomAD)
- HGVS:
14.
rs1480714576 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 10:122913164
(GRCh38)
10:124672680
(GRCh37)
- Canonical SPDI:
- NC_000010.11:122913163:T:C
- Gene:
- FAM24A (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000071/1
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
15.
rs1480664083 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 10:122911931
(GRCh38)
10:124671447
(GRCh37)
- Canonical SPDI:
- NC_000010.11:122911930:C:T
- Gene:
- FAM24A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000546/1
(Korea1K)
- HGVS:
16.
rs1480655289 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 10:122911866
(GRCh38)
10:124671382
(GRCh37)
- Canonical SPDI:
- NC_000010.11:122911865:T:C
- Gene:
- FAM24A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000079/11
(GnomAD)
C=0.001667/1
(NorthernSweden)
- HGVS:
17.
rs1479555552 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 10:122910031
(GRCh38)
10:124669547
(GRCh37)
- Canonical SPDI:
- NC_000010.11:122910030:T:C
- Gene:
- FAM24A (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=0.000011/3
(TOPMED)
- HGVS:
18.
rs1478551992 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 10:122908699
(GRCh38)
10:124668215
(GRCh37)
- Canonical SPDI:
- NC_000010.11:122908698:T:G
- Gene:
- FAM24A (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000019/5
(TOPMED)
- HGVS:
19.
rs1478271985 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 10:122910617
(GRCh38)
10:124670133
(GRCh37)
- Canonical SPDI:
- NC_000010.11:122910616:C:T
- Gene:
- FAM24A (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS: