Links from Nucleotide
Items: 1 to 20 of 4565
1.
rs1491123510 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AC
[Show Flanks]
- Chromosome:
- X:55016010
(GRCh38)
X:55042444
(GRCh37)
- Canonical SPDI:
- NC_000023.11:55016010:AC:ACAC
- Gene:
- ALAS2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACAC=0./0
(
ALFA)
AC=0.000004/1
(TOPMED)
AC=0.000039/2
(GnomAD)
- HGVS:
2.
rs1491120813 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- X:55016010
(GRCh38)
X:55042443
(GRCh37)
- Canonical SPDI:
- NC_000023.11:55016009:TA:
- Gene:
- ALAS2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00017/2
(
ALFA)
-=0.00065/36
(GnomAD)
-=0.0014/18
(TOMMO)
- HGVS:
3.
rs1490953755 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- X:55012260
(GRCh38)
X:55038693
(GRCh37)
- Canonical SPDI:
- NC_000023.11:55012259:T:A
- Gene:
- ALAS2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.00001/1
(GnomAD)
- HGVS:
6.
rs1490618270 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- X:55030470
(GRCh38)
X:55056903
(GRCh37)
- Canonical SPDI:
- NC_000023.11:55030469:C:T
- Gene:
- ALAS2 (Varview), PAGE2B (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.00001/1
(GnomAD)
- HGVS:
7.
rs1490463075 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- X:55011525
(GRCh38)
X:55037958
(GRCh37)
- Canonical SPDI:
- NC_000023.11:55011524:T:C
- Gene:
- ALAS2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000015/4
(TOPMED)
- HGVS:
8.
rs1490178364 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:55015757
(GRCh38)
X:55042190
(GRCh37)
- Canonical SPDI:
- NC_000023.11:55015756:G:A
- Gene:
- ALAS2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
A=0.000006/1
(GnomAD_exomes)
- HGVS:
9.
rs1490160648 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- X:55014637
(GRCh38)
X:55041070
(GRCh37)
- Canonical SPDI:
- NC_000023.11:55014636:T:G
- Gene:
- ALAS2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000019/2
(GnomAD)
- HGVS:
10.
rs1489936146 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- X:55035876
(GRCh38)
X:55062309
(GRCh37)
- Canonical SPDI:
- NC_000023.11:55035875:T:C
- Gene:
- PAGE2B (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000285/4
(
ALFA)
C=0.000023/6
(TOPMED)
C=0.000029/3
(GnomAD)
- HGVS:
11.
rs1489359005 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- X:55027332
(GRCh38)
X:55053765
(GRCh37)
- Canonical SPDI:
- NC_000023.11:55027331:T:A
- Gene:
- ALAS2 (Varview), PAGE2B (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.00005/5
(GnomAD)
- HGVS:
12.
rs1489240495 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- X:55034812
(GRCh38)
X:55061245
(GRCh37)
- Canonical SPDI:
- NC_000023.11:55034811:AT:
- Gene:
- PAGE2B (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.00001/1
(GnomAD)
-=0.000011/3
(TOPMED)
- HGVS:
13.
rs1488758466 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- X:55017534
(GRCh38)
X:55043967
(GRCh37)
- Canonical SPDI:
- NC_000023.11:55017533:G:C
- Gene:
- ALAS2 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by cluster
- MAF:
C=0.000005/1
(GnomAD_exomes)
C=0.00081/10
(TOMMO)
- HGVS:
NC_000023.11:g.55017534G>C, NC_000023.10:g.55043967G>C, NG_008983.1:g.18531C>G, NM_000032.5:c.955C>G, NM_000032.4:c.955C>G, NM_001037968.4:c.916C>G, NM_001037968.3:c.916C>G, NM_001037967.4:c.844C>G, NM_001037967.3:c.844C>G, NM_001037969.2:c.835C>G, NM_001037969.1:c.739C>G, NP_000023.2:p.Pro319Ala, NP_001033057.1:p.Pro306Ala, NP_001033056.1:p.Pro282Ala
14.
rs1488687083 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- X:55008854
(GRCh38)
X:55035287
(GRCh37)
- Canonical SPDI:
- NC_000023.11:55008853:A:C
- Gene:
- ALAS2 (Varview), APEX2 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000142/2
(
ALFA)
C=0.000015/4
(TOPMED)
- HGVS:
15.
rs1488664907 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TCT>-
[Show Flanks]
- Chromosome:
- X:55021608
(GRCh38)
X:55048041
(GRCh37)
- Canonical SPDI:
- NC_000023.11:55021606:TTCT:T
- Gene:
- ALAS2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
-=0.000038/10
(TOPMED)
-=0.000038/4
(GnomAD)
- HGVS:
16.
rs1488275461 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- X:55017394
(GRCh38)
X:55043827
(GRCh37)
- Canonical SPDI:
- NC_000023.11:55017393:C:G
- Gene:
- ALAS2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.00001/1
(GnomAD)
- HGVS:
17.
rs1488165984 has merged into rs56109492 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT>-,GTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
[Show Flanks]
- Chromosome:
- X:55015969
(GRCh38)
X:55042402
(GRCh37)
- Canonical SPDI:
- NC_000023.11:55015959:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGT,NC_000023.11:55015959:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000023.11:55015959:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:55015959:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:55015959:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:55015959:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:55015959:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:55015959:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:55015959:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:55015959:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:55015959:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:55015959:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:55015959:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:55015959:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:55015959:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:55015959:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:55015959:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:55015959:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:55015959:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:55015959:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:55015959:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:55015959:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:55015959:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:55015959:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
- Gene:
- ALAS2 (Varview)
- Functional Consequence:
- intron_variant
- Clinical significance:
- benign
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGTGTGTGTGTGT=0./0
(
ALFA)
-=0.1651/477
(ALSPAC)
- HGVS:
NC_000023.11:g.55015961GT[4], NC_000023.11:g.55015961GT[8], NC_000023.11:g.55015961GT[11], NC_000023.11:g.55015961GT[12], NC_000023.11:g.55015961GT[13], NC_000023.11:g.55015961GT[14], NC_000023.11:g.55015961GT[15], NC_000023.11:g.55015961GT[16], NC_000023.11:g.55015961GT[17], NC_000023.11:g.55015961GT[18], NC_000023.11:g.55015961GT[19], NC_000023.11:g.55015961GT[20], NC_000023.11:g.55015961GT[21], NC_000023.11:g.55015961GT[22], NC_000023.11:g.55015961GT[23], NC_000023.11:g.55015961GT[24], NC_000023.11:g.55015961GT[26], NC_000023.11:g.55015961GT[27], NC_000023.11:g.55015961GT[28], NC_000023.11:g.55015961GT[29], NC_000023.11:g.55015961GT[30], NC_000023.11:g.55015961GT[31], NC_000023.11:g.55015961GT[32], NC_000023.11:g.55015961GT[38], NC_000023.10:g.55042394GT[4], NC_000023.10:g.55042394GT[8], NC_000023.10:g.55042394GT[11], NC_000023.10:g.55042394GT[12], NC_000023.10:g.55042394GT[13], NC_000023.10:g.55042394GT[14], NC_000023.10:g.55042394GT[15], NC_000023.10:g.55042394GT[16], NC_000023.10:g.55042394GT[17], NC_000023.10:g.55042394GT[18], NC_000023.10:g.55042394GT[19], NC_000023.10:g.55042394GT[20], NC_000023.10:g.55042394GT[21], NC_000023.10:g.55042394GT[22], NC_000023.10:g.55042394GT[23], NC_000023.10:g.55042394GT[24], NC_000023.10:g.55042394GT[26], NC_000023.10:g.55042394GT[27], NC_000023.10:g.55042394GT[28], NC_000023.10:g.55042394GT[29], NC_000023.10:g.55042394GT[30], NC_000023.10:g.55042394GT[31], NC_000023.10:g.55042394GT[32], NC_000023.10:g.55042394GT[38], NG_008983.1:g.20056CA[4], NG_008983.1:g.20056CA[8], NG_008983.1:g.20056CA[11], NG_008983.1:g.20056CA[12], NG_008983.1:g.20056CA[13], NG_008983.1:g.20056CA[14], NG_008983.1:g.20056CA[15], NG_008983.1:g.20056CA[16], NG_008983.1:g.20056CA[17], NG_008983.1:g.20056CA[18], NG_008983.1:g.20056CA[19], NG_008983.1:g.20056CA[20], NG_008983.1:g.20056CA[21], NG_008983.1:g.20056CA[22], NG_008983.1:g.20056CA[23], NG_008983.1:g.20056CA[24], NG_008983.1:g.20056CA[26], NG_008983.1:g.20056CA[27], NG_008983.1:g.20056CA[28], NG_008983.1:g.20056CA[29], NG_008983.1:g.20056CA[30], NG_008983.1:g.20056CA[31], NG_008983.1:g.20056CA[32], NG_008983.1:g.20056CA[38]
18.
rs1488153732 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- X:55028118
(GRCh38)
X:55054551
(GRCh37)
- Canonical SPDI:
- NC_000023.11:55028117:A:G
- Gene:
- ALAS2 (Varview), PAGE2B (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000142/2
(
ALFA)
G=0.00001/1
(GnomAD)
- HGVS:
20.
rs1488072587 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- X:55034607
(GRCh38)
X:55061040
(GRCh37)
- Canonical SPDI:
- NC_000023.11:55034606:T:C
- Gene:
- PAGE2B (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.00001/1
(GnomAD)
- HGVS: