Links from Gene
Items: 1 to 20 of 1000
1.
rs1491353976 has merged into rs67869491 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTT>-,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 12:56331710
(GRCh38)
12:56725494
(GRCh37)
- Canonical SPDI:
- NC_000012.12:56331700:TTTTTTTTTTTTTT:TTTTTTTTT,NC_000012.12:56331700:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:56331700:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:56331700:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:56331700:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:56331700:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:56331700:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:56331700:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:56331700:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:56331700:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:56331700:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000012.12:56331700:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:56331700:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:56331700:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:56331700:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:56331700:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:56331700:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:56331700:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:56331700:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:56331700:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:56331700:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- PAN2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTT=0./0
(
ALFA)
-=0.475/19
(GENOME_DK)
- HGVS:
NC_000012.12:g.56331710_56331714del, NC_000012.12:g.56331712_56331714del, NC_000012.12:g.56331713_56331714del, NC_000012.12:g.56331714del, NC_000012.12:g.56331714dup, NC_000012.12:g.56331713_56331714dup, NC_000012.12:g.56331712_56331714dup, NC_000012.12:g.56331711_56331714dup, NC_000012.12:g.56331710_56331714dup, NC_000012.12:g.56331709_56331714dup, NC_000012.12:g.56331708_56331714dup, NC_000012.12:g.56331707_56331714dup, NC_000012.12:g.56331705_56331714dup, NC_000012.12:g.56331704_56331714dup, NC_000012.12:g.56331703_56331714dup, NC_000012.12:g.56331702_56331714dup, NC_000012.12:g.56331701_56331714dup, NC_000012.12:g.56331714_56331715insTTTTTTTTTTTTTTT, NC_000012.12:g.56331714_56331715insTTTTTTTTTTTTTTTTT, NC_000012.12:g.56331714_56331715insTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.56331714_56331715insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.56725494_56725498del, NC_000012.11:g.56725496_56725498del, NC_000012.11:g.56725497_56725498del, NC_000012.11:g.56725498del, NC_000012.11:g.56725498dup, NC_000012.11:g.56725497_56725498dup, NC_000012.11:g.56725496_56725498dup, NC_000012.11:g.56725495_56725498dup, NC_000012.11:g.56725494_56725498dup, NC_000012.11:g.56725493_56725498dup, NC_000012.11:g.56725492_56725498dup, NC_000012.11:g.56725491_56725498dup, NC_000012.11:g.56725489_56725498dup, NC_000012.11:g.56725488_56725498dup, NC_000012.11:g.56725487_56725498dup, NC_000012.11:g.56725486_56725498dup, NC_000012.11:g.56725485_56725498dup, NC_000012.11:g.56725498_56725499insTTTTTTTTTTTTTTT, NC_000012.11:g.56725498_56725499insTTTTTTTTTTTTTTTTT, NC_000012.11:g.56725498_56725499insTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.56725498_56725499insTTTTTTTTTTTTTTTTTTTTTTTTT
2.
rs1491189407 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->ATACCT,ATACCTG,ATACCTGGCGTACAGTATCCAGT
[Show Flanks]
- Chromosome:
- 12:56335644
(GRCh38)
12:56729429
(GRCh37)
- Canonical SPDI:
- NC_000012.12:56335644::ATACCT,NC_000012.12:56335644::ATACCTG,NC_000012.12:56335644::ATACCTGGCGTACAGTATCCAGT
- Gene:
- PAN2 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
ATACCT=0.000007/1
(GnomAD)
ATACCTG=0.000035/1
(TOMMO)
- HGVS:
3.
rs1491166941 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GC>-
[Show Flanks]
- Chromosome:
- 12:56335647
(GRCh38)
12:56729431
(GRCh37)
- Canonical SPDI:
- NC_000012.12:56335643:CGCGC:CGC
- Gene:
- PAN2 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CGC=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
4.
rs1491072557 has merged into rs10525866 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTTTTTT>-,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 12:56330359
(GRCh38)
12:56724143
(GRCh37)
- Canonical SPDI:
- NC_000012.12:56330353:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTT,NC_000012.12:56330353:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000012.12:56330353:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000012.12:56330353:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:56330353:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:56330353:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:56330353:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:56330353:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:56330353:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:56330353:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:56330353:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:56330353:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:56330353:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:56330353:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000012.12:56330353:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:56330353:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:56330353:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:56330353:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:56330353:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:56330353:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:56330353:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:56330353:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:56330353:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:56330353:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:56330353:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:56330353:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:56330353:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:56330353:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:56330353:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:56330353:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:56330353:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- PAN2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000012.12:g.56330359_56330377del, NC_000012.12:g.56330363_56330377del, NC_000012.12:g.56330364_56330377del, NC_000012.12:g.56330365_56330377del, NC_000012.12:g.56330366_56330377del, NC_000012.12:g.56330367_56330377del, NC_000012.12:g.56330368_56330377del, NC_000012.12:g.56330369_56330377del, NC_000012.12:g.56330370_56330377del, NC_000012.12:g.56330371_56330377del, NC_000012.12:g.56330372_56330377del, NC_000012.12:g.56330373_56330377del, NC_000012.12:g.56330374_56330377del, NC_000012.12:g.56330375_56330377del, NC_000012.12:g.56330376_56330377del, NC_000012.12:g.56330377del, NC_000012.12:g.56330377dup, NC_000012.12:g.56330376_56330377dup, NC_000012.12:g.56330375_56330377dup, NC_000012.12:g.56330374_56330377dup, NC_000012.12:g.56330373_56330377dup, NC_000012.12:g.56330372_56330377dup, NC_000012.12:g.56330371_56330377dup, NC_000012.12:g.56330370_56330377dup, NC_000012.12:g.56330369_56330377dup, NC_000012.12:g.56330368_56330377dup, NC_000012.12:g.56330367_56330377dup, NC_000012.12:g.56330366_56330377dup, NC_000012.12:g.56330365_56330377dup, NC_000012.12:g.56330364_56330377dup, NC_000012.12:g.56330357_56330377dup, NC_000012.11:g.56724143_56724161del, NC_000012.11:g.56724147_56724161del, NC_000012.11:g.56724148_56724161del, NC_000012.11:g.56724149_56724161del, NC_000012.11:g.56724150_56724161del, NC_000012.11:g.56724151_56724161del, NC_000012.11:g.56724152_56724161del, NC_000012.11:g.56724153_56724161del, NC_000012.11:g.56724154_56724161del, NC_000012.11:g.56724155_56724161del, NC_000012.11:g.56724156_56724161del, NC_000012.11:g.56724157_56724161del, NC_000012.11:g.56724158_56724161del, NC_000012.11:g.56724159_56724161del, NC_000012.11:g.56724160_56724161del, NC_000012.11:g.56724161del, NC_000012.11:g.56724161dup, NC_000012.11:g.56724160_56724161dup, NC_000012.11:g.56724159_56724161dup, NC_000012.11:g.56724158_56724161dup, NC_000012.11:g.56724157_56724161dup, NC_000012.11:g.56724156_56724161dup, NC_000012.11:g.56724155_56724161dup, NC_000012.11:g.56724154_56724161dup, NC_000012.11:g.56724153_56724161dup, NC_000012.11:g.56724152_56724161dup, NC_000012.11:g.56724151_56724161dup, NC_000012.11:g.56724150_56724161dup, NC_000012.11:g.56724149_56724161dup, NC_000012.11:g.56724148_56724161dup, NC_000012.11:g.56724141_56724161dup
5.
rs1490907148 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:56332817
(GRCh38)
12:56726601
(GRCh37)
- Canonical SPDI:
- NC_000012.12:56332816:T:C
- Gene:
- PAN2 (Varview)
- Functional Consequence:
- intron_variant,coding_sequence_variant,missense_variant
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000012.12:g.56332817T>C, NC_000012.11:g.56726601T>C, NM_014871.6:c.278A>G, NM_014871.5:c.278A>G, NM_014871.4:c.278A>G, NM_001127460.4:c.278A>G, NM_001127460.3:c.278A>G, NM_001127460.2:c.278A>G, NM_001166279.3:c.278A>G, NM_001166279.2:c.278A>G, NM_001166279.1:c.278A>G, NM_001394700.1:c.278A>G, NM_001394702.1:c.278A>G, NM_001394699.1:c.278A>G, NM_001394701.1:c.278A>G, NM_001394707.1:c.278A>G, NM_001394703.1:c.278A>G, NM_001394704.1:c.278A>G, NM_001394705.1:c.278A>G, NM_001394706.1:c.278A>G, NP_055686.4:p.His93Arg, NP_001120932.2:p.His93Arg, NP_001159751.2:p.His93Arg, NP_001381629.1:p.His93Arg, NP_001381631.1:p.His93Arg, NP_001381628.1:p.His93Arg, NP_001381630.1:p.His93Arg, NP_001381636.1:p.His93Arg, NP_001381632.1:p.His93Arg, NP_001381633.1:p.His93Arg, NP_001381634.1:p.His93Arg, NP_001381635.1:p.His93Arg
6.
rs1490835373 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTTTTT>-
[Show Flanks]
- Chromosome:
- 12:56331715
(GRCh38)
12:56725499
(GRCh37)
- Canonical SPDI:
- NC_000012.12:56331709:TTTTTGTTTTT:TTTTT
- Gene:
- PAN2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTT=0./0
(
ALFA)
-=0.000049/13
(TOPMED)
-=0.000074/9
(GnomAD)
- HGVS:
7.
rs1490686731 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:56330636
(GRCh38)
12:56724420
(GRCh37)
- Canonical SPDI:
- NC_000012.12:56330635:G:A
- Gene:
- PAN2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
8.
rs1490679414 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:56321915
(GRCh38)
12:56715699
(GRCh37)
- Canonical SPDI:
- NC_000012.12:56321914:C:T
- Gene:
- PAN2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000029/4
(GnomAD)
T=0.000034/9
(TOPMED)
- HGVS:
9.
rs1490550976 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 12:56318044
(GRCh38)
12:56711828
(GRCh37)
- Canonical SPDI:
- NC_000012.12:56318043:G:A,NC_000012.12:56318043:G:T
- Gene:
- PAN2 (Varview), CNPY2 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
10.
rs1490406475 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 12:56322490
(GRCh38)
12:56716274
(GRCh37)
- Canonical SPDI:
- NC_000012.12:56322489:A:C
- Gene:
- PAN2 (Varview)
- Functional Consequence:
- 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:
11.
rs1490344388 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:56332052
(GRCh38)
12:56725836
(GRCh37)
- Canonical SPDI:
- NC_000012.12:56332051:A:G
- Gene:
- PAN2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
12.
rs1490176230 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 12:56321945
(GRCh38)
12:56715729
(GRCh37)
- Canonical SPDI:
- NC_000012.12:56321944:G:C
- Gene:
- PAN2 (Varview)
- Functional Consequence:
- 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:
13.
rs1490098716 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:56328339
(GRCh38)
12:56722123
(GRCh37)
- Canonical SPDI:
- NC_000012.12:56328338:T:C
- Gene:
- PAN2 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000012.12:g.56328339T>C, NC_000012.11:g.56722123T>C, NM_014871.6:c.472A>G, NM_014871.5:c.472A>G, NM_014871.4:c.472A>G, NM_001127460.4:c.472A>G, NM_001127460.3:c.472A>G, NM_001127460.2:c.472A>G, NM_001166279.3:c.472A>G, NM_001166279.2:c.472A>G, NM_001166279.1:c.472A>G, NM_001394700.1:c.472A>G, NM_001394702.1:c.472A>G, NM_001394699.1:c.472A>G, NM_001394701.1:c.472A>G, NM_001394707.1:c.472A>G, NM_001394703.1:c.472A>G, NM_001394704.1:c.472A>G, NM_001394705.1:c.472A>G, NM_001394706.1:c.472A>G, NM_001394708.1:c.55A>G, NP_055686.4:p.Met158Val, NP_001120932.2:p.Met158Val, NP_001159751.2:p.Met158Val, NP_001381629.1:p.Met158Val, NP_001381631.1:p.Met158Val, NP_001381628.1:p.Met158Val, NP_001381630.1:p.Met158Val, NP_001381636.1:p.Met158Val, NP_001381632.1:p.Met158Val, NP_001381633.1:p.Met158Val, NP_001381634.1:p.Met158Val, NP_001381635.1:p.Met158Val, NP_001381637.1:p.Met19Val
14.
rs1489766755 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 12:56333636
(GRCh38)
12:56727420
(GRCh37)
- Canonical SPDI:
- NC_000012.12:56333635:C:A,NC_000012.12:56333635:C:T
- Gene:
- PAN2 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
NC_000012.12:g.56333636C>A, NC_000012.12:g.56333636C>T, NC_000012.11:g.56727420C>A, NC_000012.11:g.56727420C>T, NM_001127460.4:c.-264G>T, NM_001127460.4:c.-264G>A, NM_001127460.3:c.-264G>T, NM_001127460.3:c.-264G>A, NM_001127460.2:c.-264G>T, NM_001127460.2:c.-264G>A, NM_001394700.1:c.-264G>T, NM_001394700.1:c.-264G>A, NM_001394702.1:c.-264G>T, NM_001394702.1:c.-264G>A, NM_001394707.1:c.-264G>T, NM_001394707.1:c.-264G>A
15.
rs1489533405 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:56327813
(GRCh38)
12:56721597
(GRCh37)
- Canonical SPDI:
- NC_000012.12:56327812:A:G
- Gene:
- PAN2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
16.
rs1489332805 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 12:56315918
(GRCh38)
12:56709702
(GRCh37)
- Canonical SPDI:
- NC_000012.12:56315917:G:A,NC_000012.12:56315917:G:C
- Gene:
- CNPY2 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000012.12:g.56315918G>A, NC_000012.12:g.56315918G>C, NC_000012.11:g.56709702G>A, NC_000012.11:g.56709702G>C, NM_014255.7:c.-123C>T, NM_014255.7:c.-123C>G, NM_014255.6:c.-123C>T, NM_014255.6:c.-123C>G, NM_014255.5:c.-123C>T, NM_014255.5:c.-123C>G, NM_001190991.3:c.-123C>T, NM_001190991.3:c.-123C>G, NM_001190991.2:c.-123C>T, NM_001190991.2:c.-123C>G, NM_001190991.1:c.-123C>T, NM_001190991.1:c.-123C>G
17.
rs1489329040 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:56322534
(GRCh38)
12:56716318
(GRCh37)
- Canonical SPDI:
- NC_000012.12:56322533:C:T
- Gene:
- PAN2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
18.
rs1489328935 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 12:56329624
(GRCh38)
12:56723408
(GRCh37)
- Canonical SPDI:
- NC_000012.12:56329623:C:A
- Gene:
- PAN2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
20.
rs1489210795 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:56319544
(GRCh38)
12:56713328
(GRCh37)
- Canonical SPDI:
- NC_000012.12:56319543:A:G
- Gene:
- PAN2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000108/2
(
ALFA)
G=0.000014/2
(GnomAD)
G=0.000019/5
(TOPMED)
G=0.000446/2
(Estonian)
- HGVS: