SNP Links for Gene (Select 11108) - SNP

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Select item 14914406211.

rs1491440621 [Homo sapiens]

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

Select item 14913877152.

rs1491387715 has merged into rs750002269 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 12:107742775 (GRCh38)
12:108136552 (GRCh37)
Canonical SPDI:: NC_000012.12:107742763:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:107742763:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:107742763:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:107742763:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:107742763:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:107742763:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:107742763:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:107742763:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:107742763:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:107742763:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000012.12:107742763:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:107742763:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PRDM4 (Varview), PRDM4-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.089/343 (ALSPAC)
-=0.375/3 (KOREAN)
HGVS:: NC_000012.12:g.107742775_107742781del, NC_000012.12:g.107742776_107742781del, NC_000012.12:g.107742777_107742781del, NC_000012.12:g.107742778_107742781del, NC_000012.12:g.107742779_107742781del, NC_000012.12:g.107742780_107742781del, NC_000012.12:g.107742781del, NC_000012.12:g.107742781dup, NC_000012.12:g.107742780_107742781dup, NC_000012.12:g.107742779_107742781dup, NC_000012.12:g.107742774_107742781dup, NC_000012.12:g.107742764_107742781T[29]GTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000012.11:g.108136552_108136558del, NC_000012.11:g.108136553_108136558del, NC_000012.11:g.108136554_108136558del, NC_000012.11:g.108136555_108136558del, NC_000012.11:g.108136556_108136558del, NC_000012.11:g.108136557_108136558del, NC_000012.11:g.108136558del, NC_000012.11:g.108136558dup, NC_000012.11:g.108136557_108136558dup, NC_000012.11:g.108136556_108136558dup, NC_000012.11:g.108136551_108136558dup, NC_000012.11:g.108136541_108136558T[29]GTTTTTTTTTTTTTTTTTTTTTTT[1]

Select item 14911128583.

rs1491112858 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 12:107742763 (GRCh38)
12:108136540 (GRCh37)
Canonical SPDI:: NC_000012.12:107742762:CT:
Gene:: PRDM4 (Varview), PRDM4-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000253/3 (ALFA)
-=0.000452/52 (GnomAD)
HGVS:: NC_000012.12:g.107742763_107742764del, NC_000012.11:g.108136540_108136541del

Select item 14910577294.

rs1491057729 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 12:107758262 (GRCh38)
12:108152039 (GRCh37)
Canonical SPDI:: NC_000012.12:107758260:TGT:T
Gene:: PRDM4 (Varview), PRDM4-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00755/123 (ALFA)
-=0.000925/15 (TOMMO)
-=0.002971/322 (GnomAD)
HGVS:: NC_000012.12:g.107758262_107758263del, NC_000012.11:g.108152039_108152040del

Select item 14907968515.

rs1490796851 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:107760550 (GRCh38)
12:108154327 (GRCh37)
Canonical SPDI:: NC_000012.12:107760549:C:G
Gene:: PRDM4 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.107760550C>G, NC_000012.11:g.108154327C>G, NM_012406.4:c.-35G>C, NM_012406.3:c.-35G>C, XM_005268593.2:c.-35G>C, XM_005268593.1:c.-35G>C

Select item 14907218326.

rs1490721832 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 12:107736698 (GRCh38)
12:108130475 (GRCh37)
Canonical SPDI:: NC_000012.12:107736697:T:C,NC_000012.12:107736697:T:G
Gene:: PRDM4 (Varview), PRDM4-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000021/3 (GnomAD)
HGVS:: NC_000012.12:g.107736698T>C, NC_000012.12:g.107736698T>G, NC_000012.11:g.108130475T>C, NC_000012.11:g.108130475T>G, NR_120474.1:n.144T>C, NR_120474.1:n.144T>G

Select item 14906347287.

rs1490634728 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 12:107760912 (GRCh38)
12:108154689 (GRCh37)
Canonical SPDI:: NC_000012.12:107760911:C:A,NC_000012.12:107760911:C:T
Gene:: PRDM4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000012.12:g.107760912C>A, NC_000012.12:g.107760912C>T, NC_000012.11:g.108154689C>A, NC_000012.11:g.108154689C>T

Select item 14904753598.

rs1490475359 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 12:107736791 (GRCh38)
12:108130568 (GRCh37)
Canonical SPDI:: NC_000012.12:107736790:A:C,NC_000012.12:107736790:A:G
Gene:: PRDM4 (Varview), PRDM4-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000312/2 (1000Genomes)
HGVS:: NC_000012.12:g.107736791A>C, NC_000012.12:g.107736791A>G, NC_000012.11:g.108130568A>C, NC_000012.11:g.108130568A>G, NR_120474.1:n.237A>C, NR_120474.1:n.237A>G

Select item 14904245199.

rs1490424519 [Homo sapiens]

Variant type:: DELINS
Alleles:: CAC>- [Show Flanks]
Chromosome:: 12:107734878 (GRCh38)
12:108128655 (GRCh37)
Canonical SPDI:: NC_000012.12:107734874:CACCAC:CAC
Gene:: PRDM4 (Varview), PRDM4-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACCAC=0.000071/1 (ALFA)
-=0.000023/6 (TOPMED)
-=0.000029/4 (GnomAD)
HGVS:: NC_000012.12:g.107734875CAC[1], NC_000012.11:g.108128652CAC[1]

Select item 149041229310.

rs1490412293 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 12:107746078 (GRCh38)
12:108139855 (GRCh37)
Canonical SPDI:: NC_000012.12:107746077:A:C,NC_000012.12:107746077:A:G
Gene:: PRDM4 (Varview), PRDM4-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.107746078A>C, NC_000012.12:g.107746078A>G, NC_000012.11:g.108139855A>C, NC_000012.11:g.108139855A>G

Select item 149032089711.

rs1490320897 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 12:107733454 (GRCh38)
12:108127231 (GRCh37)
Canonical SPDI:: NC_000012.12:107733453:G:A,NC_000012.12:107733453:G:C
Gene:: PRDM4 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.107733454G>A, NC_000012.12:g.107733454G>C, NC_000012.11:g.108127231G>A, NC_000012.11:g.108127231G>C, NM_012406.4:c.*756C>T, NM_012406.4:c.*756C>G, NM_012406.3:c.*756C>T, NM_012406.3:c.*756C>G, XM_005268593.2:c.*756C>T, XM_005268593.2:c.*756C>G, XM_005268593.1:c.*756C>T, XM_005268593.1:c.*756C>G

Select item 149030638712.

rs1490306387 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:107760112 (GRCh38)
12:108153889 (GRCh37)
Canonical SPDI:: NC_000012.12:107760111:A:G
Gene:: PRDM4 (Varview), PRDM4-AS1 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
HGVS:: NC_000012.12:g.107760112A>G, NC_000012.11:g.108153889A>G

Select item 149023093413.

rs1490230934 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:107736256 (GRCh38)
12:108130033 (GRCh37)
Canonical SPDI:: NC_000012.12:107736255:T:C
Gene:: PRDM4 (Varview), PRDM4-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.107736256T>C, NC_000012.11:g.108130033T>C

Select item 149020754314.

rs1490207543 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:107754325 (GRCh38)
12:108148102 (GRCh37)
Canonical SPDI:: NC_000012.12:107754324:G:A
Gene:: PRDM4 (Varview), PRDM4-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000043/6 (GnomAD)
A=0.000049/13 (TOPMED)
A=0.000071/2 (TOMMO)
HGVS:: NC_000012.12:g.107754325G>A, NC_000012.11:g.108148102G>A

Select item 149015114115.

rs1490151141 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 12:107738891 (GRCh38)
12:108132668 (GRCh37)
Canonical SPDI:: NC_000012.12:107738890:A:
Gene:: PRDM4 (Varview), PRDM4-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.107738891del, NC_000012.11:g.108132668del

Select item 149010222316.

rs1490102223 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:107736748 (GRCh38)
12:108130525 (GRCh37)
Canonical SPDI:: NC_000012.12:107736747:G:A
Gene:: PRDM4 (Varview), PRDM4-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000447/2 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000446/2 (Estonian)
HGVS:: NC_000012.12:g.107736748G>A, NC_000012.11:g.108130525G>A, NR_120474.1:n.194G>A

Select item 149009369217.

rs1490093692 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 12:107745197 (GRCh38)
12:108138974 (GRCh37)
Canonical SPDI:: NC_000012.12:107745196:G:A,NC_000012.12:107745196:G:C
Gene:: PRDM4 (Varview), PRDM4-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.107745197G>A, NC_000012.12:g.107745197G>C, NC_000012.11:g.108138974G>A, NC_000012.11:g.108138974G>C

Select item 148999305618.

rs1489993056 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:107744719 (GRCh38)
12:108138496 (GRCh37)
Canonical SPDI:: NC_000012.12:107744718:G:C
Gene:: PRDM4 (Varview), PRDM4-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.107744719G>C, NC_000012.11:g.108138496G>C

Select item 148998650319.

rs1489986503 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:107737788 (GRCh38)
12:108131565 (GRCh37)
Canonical SPDI:: NC_000012.12:107737787:T:C
Gene:: PRDM4 (Varview), PRDM4-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.107737788T>C, NC_000012.11:g.108131565T>C

Select item 148993788120.

rs1489937881 [Homo sapiens]

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

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