SNP Links for Gene (Select 5757) - SNP

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Items: 1 to 20 of 3157

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Select item 14912434501.

rs1491243450 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 2:231712862 (GRCh38)
2:232577572 (GRCh37)
Canonical SPDI:: NC_000002.12:231712861:AG:
Gene:: PTMA (Varview), MIR1244-1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000002.12:g.231712862_231712863del, NC_000002.11:g.232577572_232577573del, NM_002823.5:c.*11_*12del, NM_002823.4:c.*11_*12del, NM_001099285.2:c.*11_*12del, NM_001099285.1:c.*11_*12del

Select item 14911648702.

rs1491164870 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>- [Show Flanks]
Chromosome:: 2:231712179 (GRCh38)
2:232576889 (GRCh37)
Canonical SPDI:: NC_000002.12:231712175:CACAC:CAC
Gene:: PTMA (Varview), MIR1244-1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CAC=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.231712177AC[1], NC_000002.11:g.232576887AC[1]

Select item 14909296773.

rs1490929677 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:231708441 (GRCh38)
2:232573151 (GRCh37)
Canonical SPDI:: NC_000002.12:231708440:C:T
Gene:: PTMA (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.231708441C>T, NC_000002.11:g.232573151C>T

Select item 14908303984.

rs1490830398 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:231710690 (GRCh38)
2:232575400 (GRCh37)
Canonical SPDI:: NC_000002.12:231710689:C:T
Gene:: PTMA (Varview)
Functional Consequence:: intron_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.231710690C>T, NC_000002.11:g.232575400C>T

Select item 14905042005.

rs1490504200 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 2:231711758 (GRCh38)
2:232576468 (GRCh37)
Canonical SPDI:: NC_000002.12:231711754:TCTCT:TCT
Gene:: PTMA (Varview), MIR1244-1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: TCT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.231711756CT[1], NC_000002.11:g.232576466CT[1]

Select item 14903380876.

rs1490338087 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:231713436 (GRCh38)
2:232578146 (GRCh37)
Canonical SPDI:: NC_000002.12:231713435:G:T
Gene:: PTMA (Varview), MIR1244-1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.231713436G>T, NC_000002.11:g.232578146G>T, NM_002823.5:c.*585G>T, NM_002823.4:c.*585G>T, NM_001099285.2:c.*585G>T, NM_001099285.1:c.*585G>T

Select item 14900871807.

rs1490087180 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:231712504 (GRCh38)
2:232577214 (GRCh37)
Canonical SPDI:: NC_000002.12:231712503:T:C
Gene:: PTMA (Varview), MIR1244-1 (Varview)
Functional Consequence:: upstream_transcript_variant,synonymous_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.231712504T>C, NC_000002.11:g.232577214T>C, NM_002823.5:c.273T>C, NM_002823.4:c.273T>C, NM_001099285.2:c.276T>C, NM_001099285.1:c.276T>C

Select item 14900727128.

rs1490072712 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:231710669 (GRCh38)
2:232575379 (GRCh37)
Canonical SPDI:: NC_000002.12:231710668:C:A,NC_000002.12:231710668:C:T
Gene:: PTMA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
A=0.000009/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.231710669C>A, NC_000002.12:g.231710669C>T, NC_000002.11:g.232575379C>A, NC_000002.11:g.232575379C>T

Select item 14900282579.

rs1490028257 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:231711679 (GRCh38)
2:232576389 (GRCh37)
Canonical SPDI:: NC_000002.12:231711678:G:T
Gene:: PTMA (Varview), MIR1244-1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.231711679G>T, NC_000002.11:g.232576389G>T

Select item 149001418710.

rs1490014187 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:231712115 (GRCh38)
2:232576825 (GRCh37)
Canonical SPDI:: NC_000002.12:231712114:G:C
Gene:: PTMA (Varview), MIR1244-1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_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:: NC_000002.12:g.231712115G>C, NC_000002.11:g.232576825G>C

Select item 148995588811.

rs1489955888 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 2:231710509 (GRCh38)
2:232575219 (GRCh37)
Canonical SPDI:: NC_000002.12:231710505:GAGAG:GAG
Gene:: PTMA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAG=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
-=0.000022/2 (GnomAD_exomes)
-=0.000035/1 (TOMMO)
-=0.000156/1 (1000Genomes)
HGVS:: NC_000002.12:g.231710507AG[1], NC_000002.11:g.232575217AG[1]

Select item 148928202312.

rs1489282023 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:231708462 (GRCh38)
2:232573172 (GRCh37)
Canonical SPDI:: NC_000002.12:231708461:C:T
Gene:: PTMA (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.231708462C>T, NC_000002.11:g.232573172C>T

Select item 148898949313.

rs1488989493 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:231710735 (GRCh38)
2:232575445 (GRCh37)
Canonical SPDI:: NC_000002.12:231710734:G:A,NC_000002.12:231710734:G:C
Gene:: PTMA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000002.12:g.231710735G>A, NC_000002.12:g.231710735G>C, NC_000002.11:g.232575445G>A, NC_000002.11:g.232575445G>C

Select item 148866480914.

rs1488664809 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:231710492 (GRCh38)
2:232575202 (GRCh37)
Canonical SPDI:: NC_000002.12:231710491:G:C
Gene:: PTMA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.231710492G>C, NC_000002.11:g.232575202G>C

Select item 148835191715.

rs1488351917 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:231708488 (GRCh38)
2:232573198 (GRCh37)
Canonical SPDI:: NC_000002.12:231708487:C:T
Gene:: PTMA (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.231708488C>T, NC_000002.11:g.232573198C>T

Select item 148810723816.

rs1488107238 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:231707936 (GRCh38)
2:232572646 (GRCh37)
Canonical SPDI:: NC_000002.12:231707935:T:G
Gene:: PTMA (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.231707936T>G, NC_000002.11:g.232572646T>G

Select item 148800420317.

rs1488004203 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:231708917 (GRCh38)
2:232573627 (GRCh37)
Canonical SPDI:: NC_000002.12:231708916:G:A,NC_000002.12:231708916:G:C
Gene:: PTMA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00007/1 (ALFA)
HGVS:: NC_000002.12:g.231708917G>A, NC_000002.12:g.231708917G>C, NC_000002.11:g.232573627G>A, NC_000002.11:g.232573627G>C

Select item 148778399918.

rs1487783999 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:231712863 (GRCh38)
2:232577573 (GRCh37)
Canonical SPDI:: NC_000002.12:231712862:G:A
Gene:: PTMA (Varview), MIR1244-1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000002.12:g.231712863G>A, NC_000002.11:g.232577573G>A, NM_002823.5:c.*12G>A, NM_002823.4:c.*12G>A, NM_001099285.2:c.*12G>A, NM_001099285.1:c.*12G>A

Select item 148740043819.

rs1487400438 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:231708312 (GRCh38)
2:232573022 (GRCh37)
Canonical SPDI:: NC_000002.12:231708311:A:G
Gene:: PTMA (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.231708312A>G, NC_000002.11:g.232573022A>G

Select item 148738683820.

rs1487386838 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:231709009 (GRCh38)
2:232573719 (GRCh37)
Canonical SPDI:: NC_000002.12:231709008:C:T
Gene:: PTMA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.231709009C>T, NC_000002.11:g.232573719C>T

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