SNP Links for Nucleotide (Select 649572514) - SNP

Links from Nucleotide

Items: 1 to 20 of 127

<< First< Prev

Page of 7

Next >Last >>

Select item 14896921271.

rs1489692127 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:113540156 (GRCh38)
2:114297733 (GRCh37)
Canonical SPDI:: NC_000002.12:113540155:A:G
Gene:: PGM5P4 (Varview), PGM5P4-AS1 (Varview), LOC124908046 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.113540156A>G, NC_000002.11:g.114297733A>G, XM_047446881.1:c.*606T>C, NR_121187.1:n.458T>C

Select item 14868091272.

rs1486809127 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 2:113542690 (GRCh38)
2:114300267 (GRCh37)
Canonical SPDI:: NC_000002.12:113542689:T:A,NC_000002.12:113542689:T:G
Gene:: PGM5P4 (Varview), PGM5P4-AS1 (Varview), LOC124908046 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000002.12:g.113542690T>A, NC_000002.12:g.113542690T>G, NC_000002.11:g.114300267T>A, NC_000002.11:g.114300267T>G, NR_121185.1:n.1A>T, NR_121185.1:n.1A>C, NR_121186.1:n.1A>T, NR_121186.1:n.1A>C, NR_121187.1:n.1A>T, NR_121187.1:n.1A>C

Select item 14865417453.

rs1486541745 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:113542675 (GRCh38)
2:114300252 (GRCh37)
Canonical SPDI:: NC_000002.12:113542674:G:T
Gene:: PGM5P4 (Varview), PGM5P4-AS1 (Varview), LOC124908046 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.113542675G>T, NC_000002.11:g.114300252G>T, NR_121185.1:n.16C>A, NR_121186.1:n.16C>A, NR_121187.1:n.16C>A

Select item 14844061964.

rs1484406196 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:113540414 (GRCh38)
2:114297991 (GRCh37)
Canonical SPDI:: NC_000002.12:113540413:C:T
Gene:: PGM5P4 (Varview), PGM5P4-AS1 (Varview), LOC124908046 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.113540414C>T, NC_000002.11:g.114297991C>T, XM_047446881.1:c.*348G>A, NR_121187.1:n.200G>A

Select item 14792759405.

rs1479275940 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:113540284 (GRCh38)
2:114297861 (GRCh37)
Canonical SPDI:: NC_000002.12:113540283:C:T
Gene:: PGM5P4 (Varview), PGM5P4-AS1 (Varview), LOC124908046 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.113540284C>T, NC_000002.11:g.114297861C>T, XM_047446881.1:c.*478G>A, NR_121187.1:n.330G>A

Select item 14787780896.

rs1478778089 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 2:113540359 (GRCh38)
2:114297936 (GRCh37)
Canonical SPDI:: NC_000002.12:113540358:G:A,NC_000002.12:113540358:G:C,NC_000002.12:113540358:G:T
Gene:: PGM5P4 (Varview), PGM5P4-AS1 (Varview), LOC124908046 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
T=0.000008/2 (TOPMED)
A=0.000029/4 (GnomAD)
A=0.000156/1 (1000Genomes)
HGVS:: NC_000002.12:g.113540359G>A, NC_000002.12:g.113540359G>C, NC_000002.12:g.113540359G>T, NC_000002.11:g.114297936G>A, NC_000002.11:g.114297936G>C, NC_000002.11:g.114297936G>T, XM_047446881.1:c.*403C>T, XM_047446881.1:c.*403C>G, XM_047446881.1:c.*403C>A, NR_121187.1:n.255C>T, NR_121187.1:n.255C>G, NR_121187.1:n.255C>A

Select item 14696335267.

rs1469633526 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:113542658 (GRCh38)
2:114300235 (GRCh37)
Canonical SPDI:: NC_000002.12:113542657:T:G
Gene:: PGM5P4 (Varview), PGM5P4-AS1 (Varview), LOC124908046 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.113542658T>G, NC_000002.11:g.114300235T>G, NR_121185.1:n.33A>C, NR_121186.1:n.33A>C, NR_121187.1:n.33A>C

Select item 14670066258.

rs1467006625 [Homo sapiens]

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

Select item 14574432179.

rs1457443217 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:113540105 (GRCh38)
2:114297682 (GRCh37)
Canonical SPDI:: NC_000002.12:113540104:A:T
Gene:: PGM5P4 (Varview), PGM5P4-AS1 (Varview), LOC124908046 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000038/10 (TOPMED)
T=0.000057/8 (GnomAD)
T=0.000156/1 (1000Genomes)
HGVS:: NC_000002.12:g.113540105A>T, NC_000002.11:g.114297682A>T, XM_047446881.1:c.*657T>A, NR_121187.1:n.509T>A

Select item 145485922910.

rs1454859229 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:113542566 (GRCh38)
2:114300143 (GRCh37)
Canonical SPDI:: NC_000002.12:113542565:G:A
Gene:: PGM5P4 (Varview), PGM5P4-AS1 (Varview), LOC124908046 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.113542566G>A, NC_000002.11:g.114300143G>A, NR_121185.1:n.125C>T, NR_121186.1:n.125C>T, NR_121187.1:n.125C>T

Select item 145285599011.

rs1452855990 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:113540303 (GRCh38)
2:114297880 (GRCh37)
Canonical SPDI:: NC_000002.12:113540302:T:C
Gene:: PGM5P4 (Varview), PGM5P4-AS1 (Varview), LOC124908046 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.001855/22 (ALFA)
C=0.001839/256 (GnomAD)
C=0.002097/555 (TOPMED)
C=0.002342/15 (1000Genomes)
T=0.5/1 (SGDP_PRJ)
HGVS:: NC_000002.12:g.113540303T>C, NC_000002.11:g.114297880T>C, XM_047446881.1:c.*459A>G, NR_121187.1:n.311A>G

Select item 145028330312.

rs1450283303 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 2:113540403 (GRCh38)
2:114297981 (GRCh37)
Canonical SPDI:: NC_000002.12:113540403:AAAAA:AAAAAA
Gene:: PGM5P4 (Varview), PGM5P4-AS1 (Varview), LOC124908046 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant,3_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AAAAAA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.113540408dup, NC_000002.11:g.114297985dup, XM_047446881.1:c.*358dup, NR_121187.1:n.210dup

Select item 143912202513.

rs1439122025 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:113542551 (GRCh38)
2:114300128 (GRCh37)
Canonical SPDI:: NC_000002.12:113542550:C:A,NC_000002.12:113542550:C:T
Gene:: PGM5P4 (Varview), PGM5P4-AS1 (Varview), LOC124908046 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000108/2 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.113542551C>A, NC_000002.12:g.113542551C>T, NC_000002.11:g.114300128C>A, NC_000002.11:g.114300128C>T, NR_121185.1:n.140G>T, NR_121185.1:n.140G>A, NR_121186.1:n.140G>T, NR_121186.1:n.140G>A, NR_121187.1:n.140G>T, NR_121187.1:n.140G>A

Select item 143780662014.

rs1437806620 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:113540365 (GRCh38)
2:114297942 (GRCh37)
Canonical SPDI:: NC_000002.12:113540364:G:C
Gene:: PGM5P4 (Varview), PGM5P4-AS1 (Varview), LOC124908046 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.113540365G>C, NC_000002.11:g.114297942G>C, XM_047446881.1:c.*397C>G, NR_121187.1:n.249C>G

Select item 143737738815.

rs1437377388 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 2:113540336 (GRCh38)
2:114297913 (GRCh37)
Canonical SPDI:: NC_000002.12:113540335:A:G,NC_000002.12:113540335:A:T
Gene:: PGM5P4 (Varview), PGM5P4-AS1 (Varview), LOC124908046 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.113540336A>G, NC_000002.12:g.113540336A>T, NC_000002.11:g.114297913A>G, NC_000002.11:g.114297913A>T, XM_047446881.1:c.*426T>C, XM_047446881.1:c.*426T>A, NR_121187.1:n.278T>C, NR_121187.1:n.278T>A

Select item 143734299116.

rs1437342991 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:113542571 (GRCh38)
2:114300148 (GRCh37)
Canonical SPDI:: NC_000002.12:113542570:C:T
Gene:: PGM5P4 (Varview), PGM5P4-AS1 (Varview), LOC124908046 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.113542571C>T, NC_000002.11:g.114300148C>T, NR_121185.1:n.120G>A, NR_121186.1:n.120G>A, NR_121187.1:n.120G>A

Select item 143576639717.

rs1435766397 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 2:113542653 (GRCh38)
2:114300230 (GRCh37)
Canonical SPDI:: NC_000002.12:113542652:C:A,NC_000002.12:113542652:C:G,NC_000002.12:113542652:C:T
Gene:: PGM5P4 (Varview), PGM5P4-AS1 (Varview), LOC124908046 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.113542653C>A, NC_000002.12:g.113542653C>G, NC_000002.12:g.113542653C>T, NC_000002.11:g.114300230C>A, NC_000002.11:g.114300230C>G, NC_000002.11:g.114300230C>T, NR_121185.1:n.38G>T, NR_121185.1:n.38G>C, NR_121185.1:n.38G>A, NR_121186.1:n.38G>T, NR_121186.1:n.38G>C, NR_121186.1:n.38G>A, NR_121187.1:n.38G>T, NR_121187.1:n.38G>C, NR_121187.1:n.38G>A

Select item 143408139618.

rs1434081396 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:113540115 (GRCh38)
2:114297692 (GRCh37)
Canonical SPDI:: NC_000002.12:113540114:A:T
Gene:: PGM5P4 (Varview), PGM5P4-AS1 (Varview), LOC124908046 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,upstream_transcript_variant,3_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000084/1 (ALFA)
T=0.0001/14 (GnomAD)
T=0.000156/1 (1000Genomes)
HGVS:: NC_000002.12:g.113540115A>T, NC_000002.11:g.114297692A>T, XM_047446881.1:c.*647T>A, NR_121187.1:n.499T>A

Select item 142740799519.

rs1427407995 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 2:113540148 (GRCh38)
2:114297725 (GRCh37)
Canonical SPDI:: NC_000002.12:113540147:A:G,NC_000002.12:113540147:A:T
Gene:: PGM5P4 (Varview), PGM5P4-AS1 (Varview), LOC124908046 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,upstream_transcript_variant,3_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.113540148A>G, NC_000002.12:g.113540148A>T, NC_000002.11:g.114297725A>G, NC_000002.11:g.114297725A>T, XM_047446881.1:c.*614T>C, XM_047446881.1:c.*614T>A, NR_121187.1:n.466T>C, NR_121187.1:n.466T>A

Select item 142504688720.

rs1425046887 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTTGAAGAGAATGGCTA>- [Show Flanks]
Chromosome:: 2:113540248 (GRCh38)
2:114297825 (GRCh37)
Canonical SPDI:: NC_000002.12:113540245:TATGTTGAAGAGAATGGCTA:TA
Gene:: PGM5P4 (Varview), PGM5P4-AS1 (Varview), LOC124908046 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TA=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.113540248_113540265del, NC_000002.11:g.114297825_114297842del, XM_047446881.1:c.*499_*516del, NR_121187.1:n.351_368del

<< First< Prev

Page of 7

Next >Last >>

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Nucleotide

Items: 1 to 20 of 127

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity