Links from Gene
Items: 1 to 20 of 1467
1.
rs1491503532 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 4:6687610
(GRCh38)
4:6689338
(GRCh37)
- Canonical SPDI:
- NC_000004.12:6687610:GGGGG:GGGGGG
- Gene:
- LINC02481 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
GGGGGG=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
3.
rs1491058273 has merged into rs942431882 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGT>-,GT,GTGTGT
[Show Flanks]
- Chromosome:
- 4:6692091
(GRCh38)
4:6693818
(GRCh37)
- Canonical SPDI:
- NC_000004.12:6692083:TGTGTGTGTGT:TGTGTGT,NC_000004.12:6692083:TGTGTGTGTGT:TGTGTGTGT,NC_000004.12:6692083:TGTGTGTGTGT:TGTGTGTGTGTGT
- Gene:
- S100P (Varview), LINC02481 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGTGT=0./0
(
ALFA)
TG=0.00007/1
(TOMMO)
TG=0.00055/1
(Korea1K)
- HGVS:
4.
rs1491028375 has merged into rs10658019 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTCTTTCTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 4:6687802
(GRCh38)
4:6689529
(GRCh37)
- Canonical SPDI:
- NC_000004.12:6687791:TTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000004.12:6687791:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000004.12:6687791:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000004.12:6687791:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:6687791:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:6687791:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000004.12:6687791:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000004.12:6687791:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:6687791:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000004.12:6687791:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000004.12:6687791:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000004.12:6687791:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:6687791:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:6687791:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTT,NC_000004.12:6687791:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:6687791:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:6687791:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTCTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:6687791:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:6687791:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:6687791:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:6687791:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:6687791:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:6687791:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:6687791:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:6687791:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:6687791:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- LINC02481 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000004.12:g.6687802_6687809del, NC_000004.12:g.6687803_6687809del, NC_000004.12:g.6687804_6687809del, NC_000004.12:g.6687805_6687809del, NC_000004.12:g.6687806_6687809del, NC_000004.12:g.6687807_6687809del, NC_000004.12:g.6687808_6687809del, NC_000004.12:g.6687809del, NC_000004.12:g.6687809dup, NC_000004.12:g.6687808_6687809dup, NC_000004.12:g.6687807_6687809dup, NC_000004.12:g.6687792_6687809T[21]ATTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000004.12:g.6687806_6687809dup, NC_000004.12:g.6687792_6687809T[22]CTTTTTTTTTTTTTTTTTTT[1], NC_000004.12:g.6687805_6687809dup, NC_000004.12:g.6687804_6687809dup, NC_000004.12:g.6687792_6687809T[28]CTTT[2]T[19], NC_000004.12:g.6687797_6687809dup, NC_000004.12:g.6687793_6687809dup, NC_000004.12:g.6687809_6687810insTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.6687809_6687810insTTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.6687809_6687810insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.6687809_6687810insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.6687809_6687810insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.6687809_6687810insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.6687809_6687810insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.6689529_6689536del, NC_000004.11:g.6689530_6689536del, NC_000004.11:g.6689531_6689536del, NC_000004.11:g.6689532_6689536del, NC_000004.11:g.6689533_6689536del, NC_000004.11:g.6689534_6689536del, NC_000004.11:g.6689535_6689536del, NC_000004.11:g.6689536del, NC_000004.11:g.6689536dup, NC_000004.11:g.6689535_6689536dup, NC_000004.11:g.6689534_6689536dup, NC_000004.11:g.6689519_6689536T[21]ATTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000004.11:g.6689533_6689536dup, NC_000004.11:g.6689519_6689536T[22]CTTTTTTTTTTTTTTTTTTT[1], NC_000004.11:g.6689532_6689536dup, NC_000004.11:g.6689531_6689536dup, NC_000004.11:g.6689519_6689536T[28]CTTT[2]T[19], NC_000004.11:g.6689524_6689536dup, NC_000004.11:g.6689520_6689536dup, NC_000004.11:g.6689536_6689537insTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.6689536_6689537insTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.6689536_6689537insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.6689536_6689537insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.6689536_6689537insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.6689536_6689537insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.6689536_6689537insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NR_147207.1:n.1470_1477del, NR_147207.1:n.1471_1477del, NR_147207.1:n.1472_1477del, NR_147207.1:n.1473_1477del, NR_147207.1:n.1474_1477del, NR_147207.1:n.1475_1477del, NR_147207.1:n.1476_1477del, NR_147207.1:n.1477del, NR_147207.1:n.1477dup, NR_147207.1:n.1476_1477dup, NR_147207.1:n.1475_1477dup, NR_147207.1:n.1460_1477A[24]TAAAAAAAAAAAAAAAAAAAAA[1], NR_147207.1:n.1474_1477dup, NR_147207.1:n.1460_1477A[19]GAAAAAAAAAAAAAAAAAAAAAA[1], NR_147207.1:n.1473_1477dup, NR_147207.1:n.1472_1477dup, NR_147207.1:n.1460_1477A[22]GAAA[2]A[25], NR_147207.1:n.1465_1477dup, NR_147207.1:n.1461_1477dup, NR_147207.1:n.1477_1478insAAAAAAAAAAAAAAAAAAA, NR_147207.1:n.1477_1478insAAAAAAAAAAAAAAAAAAAAA, NR_147207.1:n.1477_1478insAAAAAAAAAAAAAAAAAAAAAAAA, NR_147207.1:n.1477_1478insAAAAAAAAAAAAAAAAAAAAAAAAA, NR_147207.1:n.1477_1478insAAAAAAAAAAAAAAAAAAAAAAAAAA, NR_147207.1:n.1477_1478insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NR_147207.1:n.1477_1478insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
5.
rs1490672829 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 4:6687107
(GRCh38)
4:6688834
(GRCh37)
- Canonical SPDI:
- NC_000004.12:6687106:T:C
- Gene:
- LINC02481 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
6.
rs1489154867 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 4:6690686
(GRCh38)
4:6692413
(GRCh37)
- Canonical SPDI:
- NC_000004.12:6690685:C:T
- Gene:
- LINC02481 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
7.
rs1488062694 has merged into rs201074425 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGTGTGTGTGTGT>-,GTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT
[Show Flanks]
- Chromosome:
- 4:6692159
(GRCh38)
4:6693886
(GRCh37)
- Canonical SPDI:
- NC_000004.12:6692153:TGTGTGTGTGTGTGTGTGT:TGTGT,NC_000004.12:6692153:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGT,NC_000004.12:6692153:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000004.12:6692153:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000004.12:6692153:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000004.12:6692153:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:6692153:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT
- Gene:
- S100P (Varview), LINC02481 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGTGTGTGTGTGT=0./0
(
ALFA)
TG=0.02167/13
(NorthernSweden)
- HGVS:
NC_000004.12:g.6692155GT[2], NC_000004.12:g.6692155GT[5], NC_000004.12:g.6692155GT[7], NC_000004.12:g.6692155GT[8], NC_000004.12:g.6692155GT[10], NC_000004.12:g.6692155GT[11], NC_000004.12:g.6692155GT[12], NC_000004.11:g.6693882GT[2], NC_000004.11:g.6693882GT[5], NC_000004.11:g.6693882GT[7], NC_000004.11:g.6693882GT[8], NC_000004.11:g.6693882GT[10], NC_000004.11:g.6693882GT[11], NC_000004.11:g.6693882GT[12]
8.
rs1487906693 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGTGTGTGTGTGTGTGTATATATAT>-
[Show Flanks]
- Chromosome:
- 4:6692155
(GRCh38)
4:6693882
(GRCh37)
- Canonical SPDI:
- NC_000004.12:6692141:TGTGTATATATATGTGTGTGTGTGTGTGTGTATATATAT:TGTGTATATATAT
- Gene:
- S100P (Varview), LINC02481 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTATATATAT=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
- HGVS:
10.
rs1487064113 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:6692217
(GRCh38)
4:6693944
(GRCh37)
- Canonical SPDI:
- NC_000004.12:6692216:A:G
- Gene:
- S100P (Varview), LINC02481 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
11.
rs1486909914 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 4:6689907
(GRCh38)
4:6691634
(GRCh37)
- Canonical SPDI:
- NC_000004.12:6689906:G:C
- Gene:
- LINC02481 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
12.
rs1486782330 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 4:6692631
(GRCh38)
4:6694358
(GRCh37)
- Canonical SPDI:
- NC_000004.12:6692630:G:A
- Gene:
- S100P (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
13.
rs1486508712 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 4:6690222
(GRCh38)
4:6691949
(GRCh37)
- Canonical SPDI:
- NC_000004.12:6690221:T:C
- Gene:
- LINC02481 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
14.
rs1485766753 has merged into rs1193503138 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 4:6690724
(GRCh38)
4:6692451
(GRCh37)
- Canonical SPDI:
- NC_000004.12:6690712:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000004.12:6690712:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:6690712:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000004.12:6690712:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000004.12:6690712:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:6690712:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000004.12:6690712:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000004.12:6690712:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000004.12:6690712:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:6690712:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:6690712:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:6690712:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- LINC02481 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.000042/11
(TOPMED)
- HGVS:
NC_000004.12:g.6690724_6690731del, NC_000004.12:g.6690727_6690731del, NC_000004.12:g.6690728_6690731del, NC_000004.12:g.6690729_6690731del, NC_000004.12:g.6690730_6690731del, NC_000004.12:g.6690731del, NC_000004.12:g.6690731dup, NC_000004.12:g.6690730_6690731dup, NC_000004.12:g.6690729_6690731dup, NC_000004.12:g.6690728_6690731dup, NC_000004.12:g.6690727_6690731dup, NC_000004.12:g.6690726_6690731dup, NC_000004.11:g.6692451_6692458del, NC_000004.11:g.6692454_6692458del, NC_000004.11:g.6692455_6692458del, NC_000004.11:g.6692456_6692458del, NC_000004.11:g.6692457_6692458del, NC_000004.11:g.6692458del, NC_000004.11:g.6692458dup, NC_000004.11:g.6692457_6692458dup, NC_000004.11:g.6692456_6692458dup, NC_000004.11:g.6692455_6692458dup, NC_000004.11:g.6692454_6692458dup, NC_000004.11:g.6692453_6692458dup
15.
rs1485432822 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 4:6691204
(GRCh38)
4:6692932
(GRCh37)
- Canonical SPDI:
- NC_000004.12:6691204:CC:CCC
- Gene:
- LINC02481 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCC=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
16.
rs1485004359 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 4:6688066
(GRCh38)
4:6689794
(GRCh37)
- Canonical SPDI:
- NC_000004.12:6688066:A:AA
- Gene:
- LINC02481 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AA=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
A=0.000156/1
(1000Genomes)
- HGVS:
17.
rs1484478629 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 4:6688238
(GRCh38)
4:6689965
(GRCh37)
- Canonical SPDI:
- NC_000004.12:6688237:C:G
- Gene:
- LINC02481 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000054/1
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000223/1
(Estonian)
G=0.000264/37
(GnomAD)
- HGVS:
18.
rs1484210056 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 4:6688696
(GRCh38)
4:6690423
(GRCh37)
- Canonical SPDI:
- NC_000004.12:6688695:T:C
- Gene:
- LINC02481 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
19.
rs1483373213 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 4:6692276
(GRCh38)
4:6694003
(GRCh37)
- Canonical SPDI:
- NC_000004.12:6692275:A:C,NC_000004.12:6692275:A:G
- Gene:
- S100P (Varview), LINC02481 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by cluster
- MAF:
C=0.000007/1
(GnomAD)
- HGVS:
20.
rs1482962362 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATATATGTGTGTGT>-,ATATATGTGTGTGTATATATGTGTGTGT
[Show Flanks]
- Chromosome:
- 4:6692095
(GRCh38)
4:6693822
(GRCh37)
- Canonical SPDI:
- NC_000004.12:6692085:TGTGTGTGTATATATGTGTGTGT:TGTGTGTGT,NC_000004.12:6692085:TGTGTGTGTATATATGTGTGTGT:TGTGTGTGTATATATGTGTGTGTATATATGTGTGTGT
- Gene:
- S100P (Varview), LINC02481 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGTGTATATATGTGTGTGTATATATGTGTGTGT=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
- HGVS: