Links from Nucleotide
Items: 1 to 20 of 213
2.
rs1478220642 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 17:28248170
(GRCh38)
17:26575196
(GRCh37)
- Canonical SPDI:
- NC_000017.11:28248169:C:A,NC_000017.11:28248169:C:T
- Gene:
- PPY2P (Varview), LOC105371712 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- HGVS:
NC_000017.11:g.28248170C>A, NC_000017.11:g.28248170C>T, NC_000017.10:g.26575196C>A, NC_000017.10:g.26575196C>T, XR_934641.2:n.897G>T, XR_934641.2:n.897G>A, XR_934641.1:n.906G>T, XR_934641.1:n.906G>A, NR_002181.1:n.538C>A, NR_002181.1:n.538C>T, NM_021092.1:c.*472C>A, NM_021092.1:c.*472C>T
3.
rs1477100601 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 17:28247715
(GRCh38)
17:26574741
(GRCh37)
- Canonical SPDI:
- NC_000017.11:28247714:C:A
- Gene:
- PPY2P (Varview), LOC105371712 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
5.
rs1467695444 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:28247925
(GRCh38)
17:26574951
(GRCh37)
- Canonical SPDI:
- NC_000017.11:28247924:G:A
- Gene:
- PPY2P (Varview), LOC105371712 (Varview)
- Functional Consequence:
- 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:
6.
rs1461823804 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 17:28247920
(GRCh38)
17:26574946
(GRCh37)
- Canonical SPDI:
- NC_000017.11:28247919:G:T
- Gene:
- PPY2P (Varview), LOC105371712 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
10.
rs1448659497 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:28248266
(GRCh38)
17:26575292
(GRCh37)
- Canonical SPDI:
- NC_000017.11:28248265:C:T
- Gene:
- PPY2P (Varview), LOC105371712 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
12.
rs1447287119 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 17:28247754
(GRCh38)
17:26574780
(GRCh37)
- Canonical SPDI:
- NC_000017.11:28247753:C:G,NC_000017.11:28247753:C:T
- Gene:
- PPY2P (Varview), LOC105371712 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
NC_000017.11:g.28247754C>G, NC_000017.11:g.28247754C>T, NC_000017.10:g.26574780C>G, NC_000017.10:g.26574780C>T, XR_934641.2:n.1313G>C, XR_934641.2:n.1313G>A, XR_934641.1:n.1322G>C, XR_934641.1:n.1322G>A, NR_002181.1:n.311C>G, NR_002181.1:n.311C>T, NM_021092.1:c.*245C>G, NM_021092.1:c.*245C>T
13.
rs1446713816 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:28247453
(GRCh38)
17:26574479
(GRCh37)
- Canonical SPDI:
- NC_000017.11:28247452:G:A
- Gene:
- PPY2P (Varview), LOC105371712 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000029/4
(GnomAD)
A=0.000034/9
(TOPMED)
A=0.000035/1
(TOMMO)
- HGVS:
15.
rs1440041731 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:28247906
(GRCh38)
17:26574932
(GRCh37)
- Canonical SPDI:
- NC_000017.11:28247905:C:T
- Gene:
- PPY2P (Varview), LOC105371712 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000014/2
(GnomAD)
T=0.000602/10
(TOMMO)
- HGVS:
17.
rs1436775351 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 17:28248278
(GRCh38)
17:26575304
(GRCh37)
- Canonical SPDI:
- NC_000017.11:28248277:A:G
- Gene:
- PPY2P (Varview), LOC105371712 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
18.
rs1436218703 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:28247544
(GRCh38)
17:26574570
(GRCh37)
- Canonical SPDI:
- NC_000017.11:28247543:C:T
- Gene:
- PPY2P (Varview), LOC105371712 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000015/4
(TOPMED)
- HGVS:
19.
rs1430739889 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 17:28247698
(GRCh38)
17:26574724
(GRCh37)
- Canonical SPDI:
- NC_000017.11:28247697:T:C
- Gene:
- PPY2P (Varview), LOC105371712 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
20.
rs1425422663 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C,T
[Show Flanks]
- Chromosome:
- 17:28247778
(GRCh38)
17:26574804
(GRCh37)
- Canonical SPDI:
- NC_000017.11:28247777:G:C,NC_000017.11:28247777:G:T
- Gene:
- PPY2P (Varview), LOC105371712 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
C=0.000022/3
(GnomAD_exomes)
- HGVS:
NC_000017.11:g.28247778G>C, NC_000017.11:g.28247778G>T, NC_000017.10:g.26574804G>C, NC_000017.10:g.26574804G>T, XR_934641.2:n.1289C>G, XR_934641.2:n.1289C>A, XR_934641.1:n.1298C>G, XR_934641.1:n.1298C>A, NR_002181.1:n.335G>C, NR_002181.1:n.335G>T, NM_021092.1:c.*269G>C, NM_021092.1:c.*269G>T