SNP Links for Nucleotide (Select 197383214) - SNP

Links from Nucleotide

Items: 1 to 20 of 2361

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Select item 14908174211.

rs1490817421 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 8:209660 (GRCh38)
8:159660 (GRCh37)
Canonical SPDI:: NC_000008.11:209659:G:T
Gene:: RPL23AP53 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000084/1 (ALFA)
T=0.000105/14 (GnomAD)
HGVS:: NC_000008.11:g.209660G>T, NC_000008.10:g.159660G>T, NR_003572.2:n.4473C>A

Select item 14906853732.

rs1490685373 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:210985 (GRCh38)
8:160985 (GRCh37)
Canonical SPDI:: NC_000008.11:210984:G:A
Gene:: RPL23AP53 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000008.11:g.210985G>A, NC_000008.10:g.160985G>A, NR_003572.2:n.3148C>T

Select item 14905510463.

rs1490551046 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 8:211285 (GRCh38)
8:161285 (GRCh37)
Canonical SPDI:: NC_000008.11:211284:T:C,NC_000008.11:211284:T:G
Gene:: RPL23AP53 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.211285T>C, NC_000008.11:g.211285T>G, NC_000008.10:g.161285T>C, NC_000008.10:g.161285T>G, NR_003572.2:n.2848A>G, NR_003572.2:n.2848A>C

Select item 14899998874.

rs1489999887 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:210164 (GRCh38)
8:160164 (GRCh37)
Canonical SPDI:: NC_000008.11:210163:T:C
Gene:: RPL23AP53 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000191/26 (GnomAD)
HGVS:: NC_000008.11:g.210164T>C, NC_000008.10:g.160164T>C, NR_003572.2:n.3969A>G

Select item 14898446235.

rs1489844623 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCT>- [Show Flanks]
Chromosome:: 8:210646 (GRCh38)
8:160646 (GRCh37)
Canonical SPDI:: NC_000008.11:210643:CTCCT:CT
Gene:: RPL23AP53 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: CT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.210646_210648del, NC_000008.10:g.160646_160648del, NR_003572.2:n.3487_3489del

Select item 14894222086.

rs1489422208 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 8:208483 (GRCh38)
8:158483 (GRCh37)
Canonical SPDI:: NC_000008.11:208482:A:C
Gene:: RPL23AP53 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.208483A>C, NC_000008.10:g.158483A>C, NR_003572.2:n.5650T>G

Select item 14893808857.

rs1489380885 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTCT>- [Show Flanks]
Chromosome:: 8:210602 (GRCh38)
8:160602 (GRCh37)
Canonical SPDI:: NC_000008.11:210598:TCTGTCT:TCT
Gene:: RPL23AP53 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: TCT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.210602_210605del, NC_000008.10:g.160602_160605del, NR_003572.2:n.3531_3534del

Select item 14892940288.

rs1489294028 [Homo sapiens]

Variant type:: SNV:
Alleles:: A>C
Chromosome:: no mapping
Canonical SPDI:

Select item 14890658789.

rs1489065878 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:232229 (GRCh38)
8:182229 (GRCh37)
Canonical SPDI:: NC_000008.11:232228:G:A
Gene:: ZNF596 (Varview), RPL23AP53 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000038/10 (TOPMED)
HGVS:: NC_000008.11:g.232229G>A, NC_000008.10:g.182229G>A, NM_173539.3:c.-259G>A, NM_173539.2:c.-259G>A, NR_003572.2:n.90C>T, NM_001287399.1:c.-656G>A, NM_001287255.1:c.-111G>A, NM_001287256.1:c.-107G>A

Select item 148858391910.

rs1488583919 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:210613 (GRCh38)
8:160613 (GRCh37)
Canonical SPDI:: NC_000008.11:210612:A:G
Gene:: RPL23AP53 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.210613A>G, NC_000008.10:g.160613A>G, NR_003572.2:n.3520T>C

Select item 148856857811.

rs1488568578 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTT>- [Show Flanks]
Chromosome:: 8:213598 (GRCh38)
8:163598 (GRCh37)
Canonical SPDI:: NC_000008.11:213593:TCTTCTT:TCTT
Gene:: RPL23AP53 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTT=0.000214/3 (ALFA)
-=0.000072/10 (GnomAD)
-=0.000083/22 (TOPMED)
HGVS:: NC_000008.11:g.213595CTT[1], NC_000008.10:g.163595CTT[1], NR_003572.2:n.534AGA[1]

Select item 148841252312.

rs1488412523 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 8:212316 (GRCh38)
8:162316 (GRCh37)
Canonical SPDI:: NC_000008.11:212315:G:
Gene:: RPL23AP53 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000026/7 (TOPMED)
HGVS:: NC_000008.11:g.212316del, NC_000008.10:g.162316del, NR_003572.2:n.1817del

Select item 148834209913.

rs1488342099 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:211919 (GRCh38)
8:161919 (GRCh37)
Canonical SPDI:: NC_000008.11:211918:G:C
Gene:: RPL23AP53 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.211919G>C, NC_000008.10:g.161919G>C, NR_003572.2:n.2214C>G

Select item 148827400314.

rs1488274003 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 8:208581 (GRCh38)
8:158581 (GRCh37)
Canonical SPDI:: NC_000008.11:208580:G:A,NC_000008.11:208580:G:T
Gene:: RPL23AP53 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000029/4 (GnomAD)
HGVS:: NC_000008.11:g.208581G>A, NC_000008.11:g.208581G>T, NC_000008.10:g.158581G>A, NC_000008.10:g.158581G>T, NR_003572.2:n.5552C>T, NR_003572.2:n.5552C>A

Select item 148816692315.

rs1488166923 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 8:232221 (GRCh38)
8:182221 (GRCh37)
Canonical SPDI:: NC_000008.11:232220:G:A,NC_000008.11:232220:G:T
Gene:: ZNF596 (Varview), RPL23AP53 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000029/4 (GnomAD)
HGVS:: NC_000008.11:g.232221G>A, NC_000008.11:g.232221G>T, NC_000008.10:g.182221G>A, NC_000008.10:g.182221G>T, NM_173539.3:c.-267G>A, NM_173539.3:c.-267G>T, NM_173539.2:c.-267G>A, NM_173539.2:c.-267G>T, NR_003572.2:n.98C>T, NR_003572.2:n.98C>A, NM_001287399.1:c.-664G>A, NM_001287399.1:c.-664G>T, NM_001287255.1:c.-119G>A, NM_001287255.1:c.-119G>T, NM_001287256.1:c.-115G>A, NM_001287256.1:c.-115G>T

Select item 148801019016.

rs1488010190 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 8:211737 (GRCh38)
8:161737 (GRCh37)
Canonical SPDI:: NC_000008.11:211736:A:C,NC_000008.11:211736:A:T
Gene:: RPL23AP53 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
T=0.000546/1 (Korea1K)
HGVS:: NC_000008.11:g.211737A>C, NC_000008.11:g.211737A>T, NC_000008.10:g.161737A>C, NC_000008.10:g.161737A>T, NR_003572.2:n.2396T>G, NR_003572.2:n.2396T>A

Select item 148792181517.

rs1487921815 [Homo sapiens]

Variant type:: SNV:
Alleles:: T>A
Chromosome:: no mapping
Canonical SPDI:

Select item 148767263518.

rs1487672635 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGA>- [Show Flanks]
Chromosome:: 8:208945 (GRCh38)
8:158945 (GRCh37)
Canonical SPDI:: NC_000008.11:208940:AAGAAGA:AAGA
Gene:: RPL23AP53 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAGA=0./0 (ALFA)
-=0.000015/4 (TOPMED)
-=0.000021/3 (GnomAD)
HGVS:: NC_000008.11:g.208942AGA[1], NC_000008.10:g.158942AGA[1], NR_003572.2:n.5187CTT[1]

Select item 148680312819.

rs1486803128 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 8:212901 (GRCh38)
8:162901 (GRCh37)
Canonical SPDI:: NC_000008.11:212900:AA:A
Gene:: RPL23AP53 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0.000216/4 (ALFA)
-=0.00005/7 (GnomAD)
-=0.000132/35 (TOPMED)
HGVS:: NC_000008.11:g.212902del, NC_000008.10:g.162902del, NR_003572.2:n.1232del

Select item 148661330620.

rs1486613306 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:232177 (GRCh38)
8:182177 (GRCh37)
Canonical SPDI:: NC_000008.11:232176:G:A
Gene:: ZNF596 (Varview), RPL23AP53 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.232177G>A, NC_000008.10:g.182177G>A, NR_003572.2:n.142C>T, NM_001287255.1:c.-163G>A, NM_001287256.1:c.-159G>A

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