SNP Links for Gene (Select 29942) - SNP

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Select item 14912463381.

rs1491246338 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 8:31005432 (GRCh38)
8:30862949 (GRCh37)
Canonical SPDI:: NC_000008.11:31005432::A
Gene:: PURG (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.00012/2 (ALFA)
HGVS:: NC_000008.11:g.31005432_31005433insA, NC_000008.10:g.30862948_30862949insA

Select item 14911830422.

rs1491183042 [Homo sapiens]

Variant type:: SNV:
Alleles:: CC>-
Chromosome:: no mapping
Canonical SPDI:

Select item 14910451053.

rs1491045105 has merged into rs397791712 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATATATA>-,TA,TATA,TATATA,TATATATATA,TATATATATATA,TATATATATATATA,TATATATATATATATA,TATATATATATATATATA,TATATATATATATATATATA,TATATATATATATATATATATA,TATATATATATATATATATATATA [Show Flanks]
Chromosome:: 8:31026655 (GRCh38)
8:30884171 (GRCh37)
Canonical SPDI:: NC_000008.11:31026637:ATATATATATATATATATATATATA:ATATATATATATATATA,NC_000008.11:31026637:ATATATATATATATATATATATATA:ATATATATATATATATATA,NC_000008.11:31026637:ATATATATATATATATATATATATA:ATATATATATATATATATATA,NC_000008.11:31026637:ATATATATATATATATATATATATA:ATATATATATATATATATATATA,NC_000008.11:31026637:ATATATATATATATATATATATATA:ATATATATATATATATATATATATATA,NC_000008.11:31026637:ATATATATATATATATATATATATA:ATATATATATATATATATATATATATATA,NC_000008.11:31026637:ATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATA,NC_000008.11:31026637:ATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATA,NC_000008.11:31026637:ATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATA,NC_000008.11:31026637:ATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATA,NC_000008.11:31026637:ATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATA,NC_000008.11:31026637:ATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATA
Gene:: PURG (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATATATATATA=0./0 (ALFA)
AT=0.1389/5 (GENOME_DK)
AT=0.3914/1960 (1000Genomes)
HGVS:: NC_000008.11:g.31026639TA[8], NC_000008.11:g.31026639TA[9], NC_000008.11:g.31026639TA[10], NC_000008.11:g.31026639TA[11], NC_000008.11:g.31026639TA[13], NC_000008.11:g.31026639TA[14], NC_000008.11:g.31026639TA[15], NC_000008.11:g.31026639TA[16], NC_000008.11:g.31026639TA[17], NC_000008.11:g.31026639TA[18], NC_000008.11:g.31026639TA[19], NC_000008.11:g.31026639TA[20], NC_000008.10:g.30884155TA[8], NC_000008.10:g.30884155TA[9], NC_000008.10:g.30884155TA[10], NC_000008.10:g.30884155TA[11], NC_000008.10:g.30884155TA[13], NC_000008.10:g.30884155TA[14], NC_000008.10:g.30884155TA[15], NC_000008.10:g.30884155TA[16], NC_000008.10:g.30884155TA[17], NC_000008.10:g.30884155TA[18], NC_000008.10:g.30884155TA[19], NC_000008.10:g.30884155TA[20]

Select item 14909699434.

rs1490969943 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:31011405 (GRCh38)
8:30868921 (GRCh37)
Canonical SPDI:: NC_000008.11:31011404:C:T
Gene:: PURG (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000008.11:g.31011405C>T, NC_000008.10:g.30868921C>T

Select item 14909462685.

rs1490946268 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:30995445 (GRCh38)
8:30852961 (GRCh37)
Canonical SPDI:: NC_000008.11:30995444:C:T
Gene:: PURG (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_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_000008.11:g.30995445C>T, NC_000008.10:g.30852961C>T

Select item 14908931596.

rs1490893159 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:31028975 (GRCh38)
8:30886491 (GRCh37)
Canonical SPDI:: NC_000008.11:31028974:G:A
Gene:: PURG (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000008.11:g.31028975G>A, NC_000008.10:g.30886491G>A, NG_008870.1:g.714G>A

Select item 14907536907.

rs1490753690 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:31004593 (GRCh38)
8:30862109 (GRCh37)
Canonical SPDI:: NC_000008.11:31004592:G:A
Gene:: PURG (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000008.11:g.31004593G>A, NC_000008.10:g.30862109G>A

Select item 14907379188.

rs1490737918 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT [Show Flanks]
Chromosome:: 8:31003441 (GRCh38)
8:30860957 (GRCh37)
Canonical SPDI:: NC_000008.11:31003440:TTTTTTT:TTTTTT,NC_000008.11:31003440:TTTTTTT:TTTTTTTT
Gene:: PURG (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
-=0.00005/7 (GnomAD)
HGVS:: NC_000008.11:g.31003447del, NC_000008.11:g.31003447dup, NC_000008.10:g.30860963del, NC_000008.10:g.30860963dup

Select item 14906344999.

rs1490634499 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:30997194 (GRCh38)
8:30854710 (GRCh37)
Canonical SPDI:: NC_000008.11:30997193:G:A
Gene:: PURG (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000023/6 (TOPMED)
A=0.000156/1 (1000Genomes)
HGVS:: NC_000008.11:g.30997194G>A, NC_000008.10:g.30854710G>A

Select item 149062422810.

rs1490624228 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:31011202 (GRCh38)
8:30868718 (GRCh37)
Canonical SPDI:: NC_000008.11:31011201:G:C
Gene:: PURG (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.31011202G>C, NC_000008.10:g.30868718G>C

Select item 149058881111.

rs1490588811 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:31008852 (GRCh38)
8:30866368 (GRCh37)
Canonical SPDI:: NC_000008.11:31008851:C:A
Gene:: PURG (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.31008852C>A, NC_000008.10:g.30866368C>A

Select item 149058789012.

rs1490587890 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:31004055 (GRCh38)
8:30861571 (GRCh37)
Canonical SPDI:: NC_000008.11:31004054:C:A
Gene:: PURG (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000008.11:g.31004055C>A, NC_000008.10:g.30861571C>A

Select item 149049242413.

rs1490492424 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 8:31029034 (GRCh38)
8:30886550 (GRCh37)
Canonical SPDI:: NC_000008.11:31029033:A:T
Gene:: PURG (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.31029034A>T, NC_000008.10:g.30886550A>T, NG_008870.1:g.773A>T

Select item 149044765814.

rs1490447658 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:31020279 (GRCh38)
8:30877795 (GRCh37)
Canonical SPDI:: NC_000008.11:31020278:T:C
Gene:: PURG (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_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.31020279T>C, NC_000008.10:g.30877795T>C

Select item 149032725615.

rs1490327256 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:31027677 (GRCh38)
8:30885193 (GRCh37)
Canonical SPDI:: NC_000008.11:31027676:T:C
Gene:: PURG (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.31027677T>C, NC_000008.10:g.30885193T>C

Select item 149025855916.

rs1490258559 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 8:31005160 (GRCh38)
8:30862676 (GRCh37)
Canonical SPDI:: NC_000008.11:31005159:T:G
Gene:: PURG (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.31005160T>G, NC_000008.10:g.30862676T>G

Select item 149011474517.

rs1490114745 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:31005924 (GRCh38)
8:30863440 (GRCh37)
Canonical SPDI:: NC_000008.11:31005923:A:G
Gene:: PURG (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.31005924A>G, NC_000008.10:g.30863440A>G

Select item 149005084718.

rs1490050847 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 8:31022208 (GRCh38)
8:30879724 (GRCh37)
Canonical SPDI:: NC_000008.11:31022207:T:A
Gene:: PURG (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000008.11:g.31022208T>A, NC_000008.10:g.30879724T>A

Select item 148997437719.

rs1489974377 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:31019682 (GRCh38)
8:30877198 (GRCh37)
Canonical SPDI:: NC_000008.11:31019681:T:C
Gene:: PURG (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.31019682T>C, NC_000008.10:g.30877198T>C

Select item 148995936320.

rs1489959363 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 8:31020807 (GRCh38)
8:30878323 (GRCh37)
Canonical SPDI:: NC_000008.11:31020806:A:C
Gene:: PURG (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.31020807A>C, NC_000008.10:g.30878323A>C

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