Links from Nucleotide
Items: 1 to 20 of 528
1.
rs1490528690 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 7:16269810
(GRCh38)
7:16309435
(GRCh37)
- Canonical SPDI:
- NC_000007.14:16269809:C:G
- Gene:
- CRPPA (Varview), CRPPA-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
2.
rs1489788208 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:16269391
(GRCh38)
7:16309016
(GRCh37)
- Canonical SPDI:
- NC_000007.14:16269390:C:T
- Gene:
- CRPPA (Varview), CRPPA-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
3.
rs1488014492 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 7:16270375
(GRCh38)
7:16310000
(GRCh37)
- Canonical SPDI:
- NC_000007.14:16270374:A:T
- Gene:
- CRPPA (Varview), CRPPA-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
4.
rs1488009548 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 7:16268872
(GRCh38)
7:16308497
(GRCh37)
- Canonical SPDI:
- NC_000007.14:16268871:C:A
- Gene:
- CRPPA (Varview), CRPPA-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
5.
rs1487750802 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:16269573
(GRCh38)
7:16309198
(GRCh37)
- Canonical SPDI:
- NC_000007.14:16269572:C:T
- Gene:
- CRPPA (Varview), CRPPA-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000224/1
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000223/1
(Estonian)
- HGVS:
7.
rs1484757900 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 7:16269672
(GRCh38)
7:16309297
(GRCh37)
- Canonical SPDI:
- NC_000007.14:16269671:T:C
- Gene:
- CRPPA (Varview), CRPPA-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000389/7
(TOMMO)
- HGVS:
8.
rs1484049486 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 7:16269033
(GRCh38)
7:16308658
(GRCh37)
- Canonical SPDI:
- NC_000007.14:16269032:A:G
- Gene:
- CRPPA (Varview), CRPPA-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
9.
rs1483725046 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:16210521
(GRCh38)
7:16250146
(GRCh37)
- Canonical SPDI:
- NC_000007.14:16210520:G:A
- Gene:
- CRPPA (Varview), CRPPA-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000019/5
(TOPMED)
- HGVS:
10.
rs1482321520 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:16269153
(GRCh38)
7:16308778
(GRCh37)
- Canonical SPDI:
- NC_000007.14:16269152:C:T
- Gene:
- CRPPA (Varview), CRPPA-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
11.
rs1482010035 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 7:16269757
(GRCh38)
7:16309382
(GRCh37)
- Canonical SPDI:
- NC_000007.14:16269756:C:G,NC_000007.14:16269756:C:T
- Gene:
- CRPPA (Varview), CRPPA-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
12.
rs1481006649 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 7:16237360
(GRCh38)
7:16276985
(GRCh37)
- Canonical SPDI:
- NC_000007.14:16237359:T:C
- Gene:
- CRPPA (Varview), CRPPA-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
13.
rs1480762996 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 7:16269895
(GRCh38)
7:16309520
(GRCh37)
- Canonical SPDI:
- NC_000007.14:16269894:A:G
- Gene:
- CRPPA (Varview), CRPPA-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000071/1
(
ALFA)
G=0.000011/3
(TOPMED)
- HGVS:
14.
rs1480616991 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 7:16269108
(GRCh38)
7:16308733
(GRCh37)
- Canonical SPDI:
- NC_000007.14:16269107:C:G,NC_000007.14:16269107:C:T
- Gene:
- CRPPA (Varview), CRPPA-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
15.
rs1477574767 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 7:16269789
(GRCh38)
7:16309414
(GRCh37)
- Canonical SPDI:
- NC_000007.14:16269788:A:G
- Gene:
- CRPPA (Varview), CRPPA-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
16.
rs1475887209 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-
[Show Flanks]
- Chromosome:
- 7:16269430
(GRCh38)
7:16309055
(GRCh37)
- Canonical SPDI:
- NC_000007.14:16269428:TTT:T
- Gene:
- CRPPA (Varview), CRPPA-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000084/1
(
ALFA)
-=0.000008/2
(TOPMED)
- HGVS:
17.
rs1473873811 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 7:16261933
(GRCh38)
7:16301558
(GRCh37)
- Canonical SPDI:
- NC_000007.14:16261932:T:C
- Gene:
- CRPPA (Varview), CRPPA-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
18.
rs1470157675 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- 7:16269593
(GRCh38)
7:16309218
(GRCh37)
- Canonical SPDI:
- NC_000007.14:16269592:AAA:AA
- Gene:
- CRPPA (Varview), CRPPA-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AA=0./0
(
ALFA)
-=0.000023/6
(TOPMED)
-=0.000036/5
(GnomAD)
- HGVS:
19.
rs1470137939 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 7:16269981
(GRCh38)
7:16309606
(GRCh37)
- Canonical SPDI:
- NC_000007.14:16269980:T:G
- Gene:
- CRPPA (Varview), CRPPA-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
20.
rs1470040580 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 7:16269201
(GRCh38)
7:16308826
(GRCh37)
- Canonical SPDI:
- NC_000007.14:16269200:T:C
- Gene:
- CRPPA (Varview), CRPPA-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0./0
(GnomAD)
C=0.000004/1
(TOPMED)
- HGVS: