Links from Gene
Items: 1 to 20 of 1430
1.
rs1491261410 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GTT
[Show Flanks]
- Chromosome:
- 15:79925119
(GRCh38)
15:80217462
(GRCh37)
- Canonical SPDI:
- NC_000015.10:79925119:TT:TTGTT
- Gene:
- ST20-AS1 (Varview), ST20 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
TTGTT=0./0
(
ALFA)
TTG=0.00001/1
(GnomAD)
- HGVS:
2.
rs1491237212 has merged into rs55852815 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTT>-,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT
[Show Flanks]
- Chromosome:
- 15:79925134
(GRCh38)
15:80217476
(GRCh37)
- Canonical SPDI:
- NC_000015.10:79925118:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000015.10:79925118:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000015.10:79925118:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000015.10:79925118:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000015.10:79925118:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000015.10:79925118:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:79925118:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:79925118:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:79925118:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- ST20-AS1 (Varview), ST20 (Varview)
- Functional Consequence:
- 500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTTTT=0./0
(
ALFA)
- HGVS:
NC_000015.10:g.79925134_79925138del, NC_000015.10:g.79925136_79925138del, NC_000015.10:g.79925137_79925138del, NC_000015.10:g.79925138del, NC_000015.10:g.79925138dup, NC_000015.10:g.79925137_79925138dup, NC_000015.10:g.79925136_79925138dup, NC_000015.10:g.79925135_79925138dup, NC_000015.10:g.79925134_79925138dup, NC_000015.9:g.80217476_80217480del, NC_000015.9:g.80217478_80217480del, NC_000015.9:g.80217479_80217480del, NC_000015.9:g.80217480del, NC_000015.9:g.80217480dup, NC_000015.9:g.80217479_80217480dup, NC_000015.9:g.80217478_80217480dup, NC_000015.9:g.80217477_80217480dup, NC_000015.9:g.80217476_80217480dup
3.
rs1491176862 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 15:79925116
(GRCh38)
15:80217459
(GRCh37)
- Canonical SPDI:
- NC_000015.10:79925116:T:TT,NC_000015.10:79925116:T:TTT,NC_000015.10:79925116:T:TTTT,NC_000015.10:79925116:T:TTTTT,NC_000015.10:79925116:T:TTTTTT,NC_000015.10:79925116:T:TTTTTTT,NC_000015.10:79925116:T:TTTTTTTT,NC_000015.10:79925116:T:TTTTTTTTT,NC_000015.10:79925116:T:TTTTTTTTTT,NC_000015.10:79925116:T:TTTTTTTTTTTT,NC_000015.10:79925116:T:TTTTTTTTTTTTT,NC_000015.10:79925116:T:TTTTTTTTTTTTTT,NC_000015.10:79925116:T:TTTTTTTTTTTTTTT,NC_000015.10:79925116:T:TTTTTTTTTTTTTTTTTT,NC_000015.10:79925116:T:TTTTTTTTTTTTTTTTTTTT,NC_000015.10:79925116:T:TTTTTTTTTTTTTTTTTTTTTT
- Gene:
- ST20-AS1 (Varview), ST20 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000015.10:g.79925117dup, NC_000015.10:g.79925117_79925118insTT, NC_000015.10:g.79925117_79925118insTTT, NC_000015.10:g.79925117_79925118insTTTT, NC_000015.10:g.79925117_79925118insTTTTT, NC_000015.10:g.79925117_79925118insTTTTTT, NC_000015.10:g.79925117_79925118insTTTTTTT, NC_000015.10:g.79925117_79925118insTTTTTTTT, NC_000015.10:g.79925117_79925118insTTTTTTTTT, NC_000015.10:g.79925117_79925118insTTTTTTTTTTT, NC_000015.10:g.79925117_79925118insTTTTTTTTTTTT, NC_000015.10:g.79925117_79925118insTTTTTTTTTTTTT, NC_000015.10:g.79925117_79925118insTTTTTTTTTTTTTT, NC_000015.10:g.79925117_79925118insTTTTTTTTTTTTTTTTT, NC_000015.10:g.79925117_79925118insTTTTTTTTTTTTTTTTTTT, NC_000015.10:g.79925117_79925118insTTTTTTTTTTTTTTTTTTTTT, NC_000015.9:g.80217459dup, NC_000015.9:g.80217459_80217460insTT, NC_000015.9:g.80217459_80217460insTTT, NC_000015.9:g.80217459_80217460insTTTT, NC_000015.9:g.80217459_80217460insTTTTT, NC_000015.9:g.80217459_80217460insTTTTTT, NC_000015.9:g.80217459_80217460insTTTTTTT, NC_000015.9:g.80217459_80217460insTTTTTTTT, NC_000015.9:g.80217459_80217460insTTTTTTTTT, NC_000015.9:g.80217459_80217460insTTTTTTTTTTT, NC_000015.9:g.80217459_80217460insTTTTTTTTTTTT, NC_000015.9:g.80217459_80217460insTTTTTTTTTTTTT, NC_000015.9:g.80217459_80217460insTTTTTTTTTTTTTT, NC_000015.9:g.80217459_80217460insTTTTTTTTTTTTTTTTT, NC_000015.9:g.80217459_80217460insTTTTTTTTTTTTTTTTTTT, NC_000015.9:g.80217459_80217460insTTTTTTTTTTTTTTTTTTTTT
4.
rs1490703625 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 15:79924970
(GRCh38)
15:80217312
(GRCh37)
- Canonical SPDI:
- NC_000015.10:79924969:G:A
- Gene:
- ST20-AS1 (Varview), ST20 (Varview), ST20-MTHFS (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
5.
rs1489893494 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 15:79924501
(GRCh38)
15:80216843
(GRCh37)
- Canonical SPDI:
- NC_000015.10:79924500:T:A
- Gene:
- ST20-AS1 (Varview), ST20 (Varview), ST20-MTHFS (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
6.
rs1489522524 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 15:79920998
(GRCh38)
15:80213340
(GRCh37)
- Canonical SPDI:
- NC_000015.10:79920997:A:G
- Gene:
- ST20-AS1 (Varview), ST20 (Varview), ST20-MTHFS (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
G=0.000019/5
(TOPMED)
- HGVS:
7.
rs1489416554 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 15:79923211
(GRCh38)
15:80215553
(GRCh37)
- Canonical SPDI:
- NC_000015.10:79923210:C:T
- Gene:
- ST20-AS1 (Varview), ST20 (Varview), ST20-MTHFS (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0./0
(GnomAD)
T=0.000007/1
(GnomAD_exomes)
- HGVS:
8.
rs1489334118 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 15:79923793
(GRCh38)
15:80216135
(GRCh37)
- Canonical SPDI:
- NC_000015.10:79923792:G:A
- Gene:
- ST20-AS1 (Varview), ST20 (Varview), ST20-MTHFS (Varview)
- Functional Consequence:
- 2KB_upstream_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:
9.
rs1488905737 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 15:79923281
(GRCh38)
15:80215623
(GRCh37)
- Canonical SPDI:
- NC_000015.10:79923280:C:A,NC_000015.10:79923280:C:T
- Gene:
- ST20-AS1 (Varview), ST20 (Varview), ST20-MTHFS (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
NC_000015.10:g.79923281C>A, NC_000015.10:g.79923281C>T, NC_000015.9:g.80215623C>A, NC_000015.9:g.80215623C>T, NM_175898.2:c.*115C>A, NM_175898.2:c.*115C>T, NM_001100880.2:c.-172G>T, NM_001100880.2:c.-172G>A, NR_028330.1:n.511C>A, NR_028330.1:n.511C>T, NM_001199757.1:c.-150G>T, NM_001199757.1:c.-150G>A
10.
rs1488855907 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 15:79923789
(GRCh38)
15:80216131
(GRCh37)
- Canonical SPDI:
- NC_000015.10:79923788:C:G,NC_000015.10:79923788:C:T
- Gene:
- ST20-AS1 (Varview), ST20 (Varview), ST20-MTHFS (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000029/4
(GnomAD)
- HGVS:
11.
rs1488571458 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 15:79923460
(GRCh38)
15:80215802
(GRCh37)
- Canonical SPDI:
- NC_000015.10:79923459:C:T
- Gene:
- ST20-AS1 (Varview), ST20 (Varview), ST20-MTHFS (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_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:
12.
rs1488452387 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 15:79923473
(GRCh38)
15:80215815
(GRCh37)
- Canonical SPDI:
- NC_000015.10:79923472:A:G
- Gene:
- ST20-AS1 (Varview), ST20 (Varview), ST20-MTHFS (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
G=0.000007/1
(GnomAD_exomes)
- HGVS:
13.
rs1488161374 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 15:79921940
(GRCh38)
15:80214282
(GRCh37)
- Canonical SPDI:
- NC_000015.10:79921939:CCC:CC
- Gene:
- ST20-AS1 (Varview), ST20 (Varview), ST20-MTHFS (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CC=0.000071/1
(
ALFA)
-=0.000014/2
(GnomAD)
-=0.000015/4
(TOPMED)
- HGVS:
14.
rs1487786920 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 15:79923741
(GRCh38)
15:80216083
(GRCh37)
- Canonical SPDI:
- NC_000015.10:79923740:C:T
- Gene:
- ST20-AS1 (Varview), ST20 (Varview), ST20-MTHFS (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
- HGVS:
15.
rs1487412189 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G,T
[Show Flanks]
- Chromosome:
- 15:79922637
(GRCh38)
15:80214979
(GRCh37)
- Canonical SPDI:
- NC_000015.10:79922636:C:A,NC_000015.10:79922636:C:G,NC_000015.10:79922636:C:T
- Gene:
- ST20-AS1 (Varview), ST20 (Varview), ST20-MTHFS (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
A=0.00004/2
(GnomAD)
T=0.02941/1
(SGDP_PRJ)
- HGVS:
17.
rs1486323568 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 15:79922463
(GRCh38)
15:80214805
(GRCh37)
- Canonical SPDI:
- NC_000015.10:79922462:A:T
- Gene:
- ST20-AS1 (Varview), ST20 (Varview), ST20-MTHFS (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
18.
rs1485668553 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 15:79921730
(GRCh38)
15:80214072
(GRCh37)
- Canonical SPDI:
- NC_000015.10:79921729:T:A
- Gene:
- ST20-AS1 (Varview), ST20 (Varview), ST20-MTHFS (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,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:
19.
rs1485323435 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 15:79921318
(GRCh38)
15:80213660
(GRCh37)
- Canonical SPDI:
- NC_000015.10:79921317:GT:
- Gene:
- ST20-AS1 (Varview), ST20 (Varview), ST20-MTHFS (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.00028/5
(TOMMO)
- HGVS:
20.
rs1484979317 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 15:79922121
(GRCh38)
15:80214463
(GRCh37)
- Canonical SPDI:
- NC_000015.10:79922120:G:A
- Gene:
- ST20-AS1 (Varview), ST20 (Varview), ST20-MTHFS (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000071/1
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS: