Links from Nucleotide
Items: 1 to 20 of 367
1.
rs1490307073 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 7:148988473
(GRCh38)
7:148685565
(GRCh37)
- Canonical SPDI:
- NC_000007.14:148988472:T:C
- Gene:
- RNY1 (Varview), GHET1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000011/3
(TOPMED)
- HGVS:
3.
rs1484960480 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C,T
[Show Flanks]
- Chromosome:
- 7:148987681
(GRCh38)
7:148684773
(GRCh37)
- Canonical SPDI:
- NC_000007.14:148987680:G:C,NC_000007.14:148987680:G:T
- Gene:
- RNY1 (Varview), GHET1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
4.
rs1481366317 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 7:148989180
(GRCh38)
7:148686272
(GRCh37)
- Canonical SPDI:
- NC_000007.14:148989179:T:C
- Gene:
- RNY1 (Varview), GHET1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000011/3
(TOPMED)
- HGVS:
5.
rs1478093960 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 7:148988052
(GRCh38)
7:148685144
(GRCh37)
- Canonical SPDI:
- NC_000007.14:148988051:G:C
- Gene:
- RNY1 (Varview), GHET1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000015/4
(TOPMED)
C=0.000684/2
(KOREAN)
- HGVS:
6.
rs1477377698 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 7:148987549
(GRCh38)
7:148684641
(GRCh37)
- Canonical SPDI:
- NC_000007.14:148987548:G:A,NC_000007.14:148987548:G:C
- Gene:
- RNY1 (Varview), GHET1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
7.
rs1475281802 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 7:148988653
(GRCh38)
7:148685745
(GRCh37)
- Canonical SPDI:
- NC_000007.14:148988652:A:G
- Gene:
- RNY1 (Varview), GHET1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency
- MAF:
G=0.000007/1
(GnomAD)
- HGVS:
8.
rs1472143199 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:148989070
(GRCh38)
7:148686162
(GRCh37)
- Canonical SPDI:
- NC_000007.14:148989069:C:T
- Gene:
- RNY1 (Varview), GHET1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency
- MAF:
T=0.000007/1
(GnomAD)
- HGVS:
9.
rs1470933987 has merged into rs369679580 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 7:148989319
(GRCh38)
7:148686411
(GRCh37)
- Canonical SPDI:
- NC_000007.14:148989316:ATAT:AT
- Gene:
- GHET1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATAT=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
- HGVS:
10.
rs1469764449 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 7:148988730
(GRCh38)
7:148685822
(GRCh37)
- Canonical SPDI:
- NC_000007.14:148988729:G:T
- Gene:
- RNY1 (Varview), GHET1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,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:
11.
rs1468928044 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 7:148988251
(GRCh38)
7:148685343
(GRCh37)
- Canonical SPDI:
- NC_000007.14:148988250:A:G
- Gene:
- RNY1 (Varview), GHET1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
13.
rs1466105846 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 7:148988128
(GRCh38)
7:148685220
(GRCh37)
- Canonical SPDI:
- NC_000007.14:148988127:T:C
- Gene:
- RNY1 (Varview), GHET1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
14.
rs1464542458 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 7:148987643
(GRCh38)
7:148684735
(GRCh37)
- Canonical SPDI:
- NC_000007.14:148987642:A:G,NC_000007.14:148987642:A:T
- Gene:
- RNY1 (Varview), GHET1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
15.
rs1463547236 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 7:148987739
(GRCh38)
7:148684831
(GRCh37)
- Canonical SPDI:
- NC_000007.14:148987738:T:C
- Gene:
- RNY1 (Varview), GHET1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
16.
rs1461448960 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:148988386
(GRCh38)
7:148685478
(GRCh37)
- Canonical SPDI:
- NC_000007.14:148988385:G:A
- Gene:
- RNY1 (Varview), GHET1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000142/2
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
17.
rs1461390032 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:148988293
(GRCh38)
7:148685385
(GRCh37)
- Canonical SPDI:
- NC_000007.14:148988292:C:T
- Gene:
- RNY1 (Varview), GHET1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
- HGVS:
18.
rs1457413441 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 7:148987796
(GRCh38)
7:148684888
(GRCh37)
- Canonical SPDI:
- NC_000007.14:148987795:A:G
- Gene:
- RNY1 (Varview), GHET1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000071/1
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
19.
rs1449013127 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 7:148988285
(GRCh38)
7:148685377
(GRCh37)
- Canonical SPDI:
- NC_000007.14:148988284:A:G
- Gene:
- RNY1 (Varview), GHET1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_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.
rs1448403494 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 7:148987631
(GRCh38)
7:148684723
(GRCh37)
- Canonical SPDI:
- NC_000007.14:148987630:A:G
- Gene:
- RNY1 (Varview), GHET1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000015/4
(TOPMED)
- HGVS: