SNP Links for Gene (Select 100132594) - SNP

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Select item 14915791071.

rs1491579107 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GA [Show Flanks]
Chromosome:: 12:95652010 (GRCh38)
12:96045787 (GRCh37)
Canonical SPDI:: NC_000012.12:95652010:A:AGA
Gene:: PGAM1P5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGA=0./0 (ALFA)
AG=0.000004/1 (TOPMED)
AG=0.000012/1 (GnomAD)
HGVS:: NC_000012.12:g.95652011_95652012insGA, NC_000012.11:g.96045787_96045788insGA

Select item 14914969832.

rs1491496983 has merged into rs201529774 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 12:95652019 (GRCh38)
12:96045795 (GRCh37)
Canonical SPDI:: NC_000012.12:95652009:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000012.12:95652009:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:95652009:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:95652009:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:95652009:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:95652009:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:95652009:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:95652009:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:95652009:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:95652009:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:95652009:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000012.12:95652009:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000012.12:95652009:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:95652009:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:95652009:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:95652009:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:95652009:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:95652009:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:95652009:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:95652009:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:95652009:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:95652009:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:95652009:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:95652009:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PGAM1P5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
AAAAAAAAA=0./0 (GENOME_DK)
-=0.090106/51 (NorthernSweden)
-=0.10023/26530 (TOPMED)
-=0.246605/1235 (1000Genomes)
HGVS:: NC_000012.12:g.95652019_95652035del, NC_000012.12:g.95652021_95652035del, NC_000012.12:g.95652022_95652035del, NC_000012.12:g.95652023_95652035del, NC_000012.12:g.95652024_95652035del, NC_000012.12:g.95652025_95652035del, NC_000012.12:g.95652026_95652035del, NC_000012.12:g.95652027_95652035del, NC_000012.12:g.95652028_95652035del, NC_000012.12:g.95652029_95652035del, NC_000012.12:g.95652030_95652035del, NC_000012.12:g.95652031_95652035del, NC_000012.12:g.95652032_95652035del, NC_000012.12:g.95652033_95652035del, NC_000012.12:g.95652034_95652035del, NC_000012.12:g.95652035del, NC_000012.12:g.95652035dup, NC_000012.12:g.95652034_95652035dup, NC_000012.12:g.95652033_95652035dup, NC_000012.12:g.95652032_95652035dup, NC_000012.12:g.95652031_95652035dup, NC_000012.12:g.95652030_95652035dup, NC_000012.12:g.95652027_95652035dup, NC_000012.12:g.95652026_95652035dup, NC_000012.11:g.96045795_96045811del, NC_000012.11:g.96045797_96045811del, NC_000012.11:g.96045798_96045811del, NC_000012.11:g.96045799_96045811del, NC_000012.11:g.96045800_96045811del, NC_000012.11:g.96045801_96045811del, NC_000012.11:g.96045802_96045811del, NC_000012.11:g.96045803_96045811del, NC_000012.11:g.96045804_96045811del, NC_000012.11:g.96045805_96045811del, NC_000012.11:g.96045806_96045811del, NC_000012.11:g.96045807_96045811del, NC_000012.11:g.96045808_96045811del, NC_000012.11:g.96045809_96045811del, NC_000012.11:g.96045810_96045811del, NC_000012.11:g.96045811del, NC_000012.11:g.96045811dup, NC_000012.11:g.96045810_96045811dup, NC_000012.11:g.96045809_96045811dup, NC_000012.11:g.96045808_96045811dup, NC_000012.11:g.96045807_96045811dup, NC_000012.11:g.96045806_96045811dup, NC_000012.11:g.96045803_96045811dup, NC_000012.11:g.96045802_96045811dup

Select item 14913637623.

rs1491363762 [Homo sapiens]

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

Select item 14913167954.

rs1491316795 has merged into rs36080777 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT [Show Flanks]
Chromosome:: 12:95668158 (GRCh38)
12:96061934 (GRCh37)
Canonical SPDI:: NC_000012.12:95668143:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:95668143:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:95668143:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:95668143:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:95668143:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:95668143:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:95668143:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000012.12:95668143:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:95668143:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:95668143:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:95668143:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: NTN4 (Varview), PGAM1P5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.5/4 (KOREAN)
HGVS:: NC_000012.12:g.95668158_95668159del, NC_000012.12:g.95668159del, NC_000012.12:g.95668159dup, NC_000012.12:g.95668158_95668159dup, NC_000012.12:g.95668157_95668159dup, NC_000012.12:g.95668156_95668159dup, NC_000012.12:g.95668155_95668159dup, NC_000012.12:g.95668154_95668159dup, NC_000012.12:g.95668153_95668159dup, NC_000012.12:g.95668152_95668159dup, NC_000012.12:g.95668151_95668159dup, NC_000012.11:g.96061934_96061935del, NC_000012.11:g.96061935del, NC_000012.11:g.96061935dup, NC_000012.11:g.96061934_96061935dup, NC_000012.11:g.96061933_96061935dup, NC_000012.11:g.96061932_96061935dup, NC_000012.11:g.96061931_96061935dup, NC_000012.11:g.96061930_96061935dup, NC_000012.11:g.96061929_96061935dup, NC_000012.11:g.96061928_96061935dup, NC_000012.11:g.96061927_96061935dup, NG_051252.1:g.128062_128063del, NG_051252.1:g.128063del, NG_051252.1:g.128063dup, NG_051252.1:g.128062_128063dup, NG_051252.1:g.128061_128063dup, NG_051252.1:g.128060_128063dup, NG_051252.1:g.128059_128063dup, NG_051252.1:g.128058_128063dup, NG_051252.1:g.128057_128063dup, NG_051252.1:g.128056_128063dup, NG_051252.1:g.128055_128063dup

Select item 14908497335.

rs1490849733 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 12:95666633 (GRCh38)
12:96060409 (GRCh37)
Canonical SPDI:: NC_000012.12:95666626:AGAGAGAG:AGAGAG
Gene:: NTN4 (Varview), PGAM1P5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGAG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.95666627AG[3], NC_000012.11:g.96060403AG[3], NG_051252.1:g.129573CT[3]

Select item 14907303646.

rs1490730364 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 12:95665617 (GRCh38)
12:96059393 (GRCh37)
Canonical SPDI:: NC_000012.12:95665616:A:T
Gene:: NTN4 (Varview), PGAM1P5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000224/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000012.12:g.95665617A>T, NC_000012.11:g.96059393A>T, NG_051252.1:g.130590T>A

Select item 14906112107.

rs1490611210 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:95657439 (GRCh38)
12:96051215 (GRCh37)
Canonical SPDI:: NC_000012.12:95657438:C:A
Gene:: NTN4 (Varview), PGAM1P5 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.95657439C>A, NC_000012.11:g.96051215C>A, NG_051252.1:g.138768G>T

Select item 14903580638.

rs1490358063 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 12:95667224 (GRCh38)
12:96061001 (GRCh37)
Canonical SPDI:: NC_000012.12:95667224:T:TT
Gene:: NTN4 (Varview), PGAM1P5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.95667225dup, NC_000012.11:g.96061001dup, NG_051252.1:g.128982dup

Select item 14902849839.

rs1490284983 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:95656717 (GRCh38)
12:96050493 (GRCh37)
Canonical SPDI:: NC_000012.12:95656716:C:T
Gene:: PGAM1P5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000012.12:g.95656717C>T, NC_000012.11:g.96050493C>T, NG_051252.1:g.139490G>A

Select item 149016418710.

rs1490164187 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAAA>- [Show Flanks]
Chromosome:: 12:95649975 (GRCh38)
12:96043751 (GRCh37)
Canonical SPDI:: NC_000012.12:95649967:AAAGAAAGAAA:AAAGAAA
Gene:: PGAM1P5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAGAAA=0./0 (ALFA)
-=0.000057/8 (GnomAD)
-=0.000107/2 (TOMMO)
HGVS:: NC_000012.12:g.95649971GAAA[1], NC_000012.11:g.96043747GAAA[1]

Select item 148992729711.

rs1489927297 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:95656211 (GRCh38)
12:96049987 (GRCh37)
Canonical SPDI:: NC_000012.12:95656210:G:A
Gene:: PGAM1P5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.95656211G>A, NC_000012.11:g.96049987G>A, NG_051252.1:g.139996C>T

Select item 148987757012.

rs1489877570 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 12:95661882 (GRCh38)
12:96055658 (GRCh37)
Canonical SPDI:: NC_000012.12:95661881:C:A,NC_000012.12:95661881:C:T
Gene:: NTN4 (Varview), PGAM1P5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000012.12:g.95661882C>A, NC_000012.12:g.95661882C>T, NC_000012.11:g.96055658C>A, NC_000012.11:g.96055658C>T, NG_051252.1:g.134325G>T, NG_051252.1:g.134325G>A

Select item 148985311813.

rs1489853118 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 12:95673465 (GRCh38)
12:96067241 (GRCh37)
Canonical SPDI:: NC_000012.12:95673464:T:C,NC_000012.12:95673464:T:G
Gene:: NTN4 (Varview), PGAM1P5 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000012.12:g.95673465T>C, NC_000012.12:g.95673465T>G, NC_000012.11:g.96067241T>C, NC_000012.11:g.96067241T>G, NG_051252.1:g.122742A>G, NG_051252.1:g.122742A>C, NR_077225.1:n.1614T>C, NR_077225.1:n.1614T>G

Select item 148974574114.

rs1489745741 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:95664027 (GRCh38)
12:96057803 (GRCh37)
Canonical SPDI:: NC_000012.12:95664026:A:G
Gene:: NTN4 (Varview), PGAM1P5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
HGVS:: NC_000012.12:g.95664027A>G, NC_000012.11:g.96057803A>G, NG_051252.1:g.132180T>C

Select item 148940917915.

rs1489409179 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:95655371 (GRCh38)
12:96049147 (GRCh37)
Canonical SPDI:: NC_000012.12:95655370:T:G
Gene:: PGAM1P5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.01973/234 (ALFA)
G=0.00007/6 (GnomAD)
G=0.07808/228 (KOREAN)
T=0.5/5 (SGDP_PRJ)
HGVS:: NC_000012.12:g.95655371T>G, NC_000012.11:g.96049147T>G

Select item 148936412416.

rs1489364124 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AA [Show Flanks]
Chromosome:: 12:95671761 (GRCh38)
12:96065538 (GRCh37)
Canonical SPDI:: NC_000012.12:95671761:AA:AAAA
Gene:: NTN4 (Varview), PGAM1P5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAA=0./0 (ALFA)
AA=0.000004/1 (TOPMED)
AA=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.95671762_95671763dup, NC_000012.11:g.96065538_96065539dup, NG_051252.1:g.124444_124445dup

Select item 148923214917.

rs1489232149 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:95672946 (GRCh38)
12:96066722 (GRCh37)
Canonical SPDI:: NC_000012.12:95672945:C:T
Gene:: NTN4 (Varview), PGAM1P5 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000012.12:g.95672946C>T, NC_000012.11:g.96066722C>T, NG_051252.1:g.123261G>A, NR_077225.1:n.1095C>T

Select item 148909538918.

rs1489095389 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:95658671 (GRCh38)
12:96052447 (GRCh37)
Canonical SPDI:: NC_000012.12:95658670:A:G
Gene:: NTN4 (Varview), PGAM1P5 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_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_000012.12:g.95658671A>G, NC_000012.11:g.96052447A>G, NG_051252.1:g.137536T>C, NM_021229.4:c.*415T>C, NM_021229.3:c.*415T>C, NM_001329700.2:c.*415T>C, NM_001329700.1:c.*415T>C, NM_001329702.2:c.*415T>C, NM_001329702.1:c.*415T>C, NM_001329701.2:c.*415T>C, NM_001329701.1:c.*415T>C

Select item 148905028919.

rs1489050289 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:95647545 (GRCh38)
12:96041321 (GRCh37)
Canonical SPDI:: NC_000012.12:95647544:T:C
Gene:: PGAM1P5 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.95647545T>C, NC_000012.11:g.96041321T>C

Select item 148891972520.

rs1488919725 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:95648910 (GRCh38)
12:96042686 (GRCh37)
Canonical SPDI:: NC_000012.12:95648909:G:A
Gene:: PGAM1P5 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.95648910G>A, NC_000012.11:g.96042686G>A

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