Links from Gene
Items: 1 to 20 of 1000
2.
rs1491463918 has merged into rs147915128 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAA>-,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 3:109310417
(GRCh38)
3:109029264
(GRCh37)
- Canonical SPDI:
- NC_000003.12:109310407:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000003.12:109310407:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:109310407:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:109310407:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:109310407:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:109310407:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:109310407:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:109310407:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:109310407:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:109310407:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:109310407:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:109310407:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:109310407:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- DPPA2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAA=0./0
(
ALFA)
- HGVS:
NC_000003.12:g.109310417_109310429del, NC_000003.12:g.109310422_109310429del, NC_000003.12:g.109310424_109310429del, NC_000003.12:g.109310425_109310429del, NC_000003.12:g.109310426_109310429del, NC_000003.12:g.109310427_109310429del, NC_000003.12:g.109310428_109310429del, NC_000003.12:g.109310429del, NC_000003.12:g.109310429dup, NC_000003.12:g.109310428_109310429dup, NC_000003.12:g.109310427_109310429dup, NC_000003.12:g.109310426_109310429dup, NC_000003.12:g.109310425_109310429dup, NC_000003.11:g.109029264_109029276del, NC_000003.11:g.109029269_109029276del, NC_000003.11:g.109029271_109029276del, NC_000003.11:g.109029272_109029276del, NC_000003.11:g.109029273_109029276del, NC_000003.11:g.109029274_109029276del, NC_000003.11:g.109029275_109029276del, NC_000003.11:g.109029276del, NC_000003.11:g.109029276dup, NC_000003.11:g.109029275_109029276dup, NC_000003.11:g.109029274_109029276dup, NC_000003.11:g.109029273_109029276dup, NC_000003.11:g.109029272_109029276dup
4.
rs1491311628 has merged into rs767043097 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAA>-,A,AAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 3:109300830
(GRCh38)
3:109019677
(GRCh37)
- Canonical SPDI:
- NC_000003.12:109300821:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000003.12:109300821:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000003.12:109300821:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:109300821:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:109300821:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:109300821:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:109300821:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:109300821:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:109300821:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:109300821:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:109300821:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:109300821:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:109300821:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:109300821:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:109300821:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:109300821:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:109300821:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:109300821:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:109300821:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- DPPA2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAA=0./0
(
ALFA)
AAAAAA=0.000004/1
(TOPMED)
-=0.475/19
(GENOME_DK)
- HGVS:
NC_000003.12:g.109300830_109300842del, NC_000003.12:g.109300831_109300842del, NC_000003.12:g.109300834_109300842del, NC_000003.12:g.109300837_109300842del, NC_000003.12:g.109300838_109300842del, NC_000003.12:g.109300839_109300842del, NC_000003.12:g.109300840_109300842del, NC_000003.12:g.109300841_109300842del, NC_000003.12:g.109300842del, NC_000003.12:g.109300842dup, NC_000003.12:g.109300841_109300842dup, NC_000003.12:g.109300840_109300842dup, NC_000003.12:g.109300839_109300842dup, NC_000003.12:g.109300838_109300842dup, NC_000003.12:g.109300837_109300842dup, NC_000003.12:g.109300836_109300842dup, NC_000003.12:g.109300834_109300842dup, NC_000003.12:g.109300831_109300842dup, NC_000003.12:g.109300823_109300842dup, NC_000003.11:g.109019677_109019689del, NC_000003.11:g.109019678_109019689del, NC_000003.11:g.109019681_109019689del, NC_000003.11:g.109019684_109019689del, NC_000003.11:g.109019685_109019689del, NC_000003.11:g.109019686_109019689del, NC_000003.11:g.109019687_109019689del, NC_000003.11:g.109019688_109019689del, NC_000003.11:g.109019689del, NC_000003.11:g.109019689dup, NC_000003.11:g.109019688_109019689dup, NC_000003.11:g.109019687_109019689dup, NC_000003.11:g.109019686_109019689dup, NC_000003.11:g.109019685_109019689dup, NC_000003.11:g.109019684_109019689dup, NC_000003.11:g.109019683_109019689dup, NC_000003.11:g.109019681_109019689dup, NC_000003.11:g.109019678_109019689dup, NC_000003.11:g.109019670_109019689dup
5.
rs1491228710 has merged into rs35410330 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA
[Show Flanks]
- Chromosome:
- 3:109305789
(GRCh38)
3:109024636
(GRCh37)
- Canonical SPDI:
- NC_000003.12:109305774:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:109305774:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:109305774:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:109305774:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:109305774:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:109305774:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:109305774:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:109305774:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
- Gene:
- DPPA2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.02465/14
(NorthernSweden)
-=0.16632/641
(ALSPAC)
-=0.32827/1644
(1000Genomes)
-=0.4/16
(GENOME_DK)
- HGVS:
NC_000003.12:g.109305789_109305792del, NC_000003.12:g.109305790_109305792del, NC_000003.12:g.109305791_109305792del, NC_000003.12:g.109305792del, NC_000003.12:g.109305792dup, NC_000003.12:g.109305791_109305792dup, NC_000003.12:g.109305790_109305792dup, NC_000003.12:g.109305789_109305792dup, NC_000003.11:g.109024636_109024639del, NC_000003.11:g.109024637_109024639del, NC_000003.11:g.109024638_109024639del, NC_000003.11:g.109024639del, NC_000003.11:g.109024639dup, NC_000003.11:g.109024638_109024639dup, NC_000003.11:g.109024637_109024639dup, NC_000003.11:g.109024636_109024639dup
6.
rs1491215569 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 3:109296687
(GRCh38)
3:109015535
(GRCh37)
- Canonical SPDI:
- NC_000003.12:109296687:T:TT
- Gene:
- DPPA2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TT=0./0
(
ALFA)
T=0.00005/2
(GnomAD)
- HGVS:
7.
rs1491207792 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 3:109317345
(GRCh38)
3:109036193
(GRCh37)
- Canonical SPDI:
- NC_000003.12:109317345::T
- Gene:
- DPPA2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.00002/2
(GnomAD)
- HGVS:
10.
rs1491068027 has merged into rs36123123 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 3:109300996
(GRCh38)
3:109019843
(GRCh37)
- Canonical SPDI:
- NC_000003.12:109300985:TTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000003.12:109300985:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:109300985:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:109300985:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:109300985:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:109300985:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:109300985:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:109300985:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:109300985:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:109300985:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:109300985:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:109300985:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- DPPA2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTT=0./0
(
ALFA)
T=0.199/119
(NorthernSweden)
T=0.35/14
(GENOME_DK)
- HGVS:
NC_000003.12:g.109300996_109301001del, NC_000003.12:g.109300998_109301001del, NC_000003.12:g.109300999_109301001del, NC_000003.12:g.109301000_109301001del, NC_000003.12:g.109301001del, NC_000003.12:g.109301001dup, NC_000003.12:g.109301000_109301001dup, NC_000003.12:g.109300999_109301001dup, NC_000003.12:g.109300998_109301001dup, NC_000003.12:g.109300997_109301001dup, NC_000003.12:g.109300996_109301001dup, NC_000003.12:g.109300995_109301001dup, NC_000003.11:g.109019843_109019848del, NC_000003.11:g.109019845_109019848del, NC_000003.11:g.109019846_109019848del, NC_000003.11:g.109019847_109019848del, NC_000003.11:g.109019848del, NC_000003.11:g.109019848dup, NC_000003.11:g.109019847_109019848dup, NC_000003.11:g.109019846_109019848dup, NC_000003.11:g.109019845_109019848dup, NC_000003.11:g.109019844_109019848dup, NC_000003.11:g.109019843_109019848dup, NC_000003.11:g.109019842_109019848dup
11.
rs1491007312 has merged into rs57612425 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 3:109317363
(GRCh38)
3:109036210
(GRCh37)
- Canonical SPDI:
- NC_000003.12:109317350:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:109317350:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:109317350:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:109317350:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:109317350:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:109317350:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:109317350:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:109317350:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:109317350:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:109317350:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:109317350:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:109317350:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:109317350:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:109317350:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:109317350:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:109317350:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:109317350:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:109317350:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- DPPA2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
A=0.123003/616
(1000Genomes)
- HGVS:
NC_000003.12:g.109317363_109317369del, NC_000003.12:g.109317364_109317369del, NC_000003.12:g.109317365_109317369del, NC_000003.12:g.109317366_109317369del, NC_000003.12:g.109317367_109317369del, NC_000003.12:g.109317368_109317369del, NC_000003.12:g.109317369del, NC_000003.12:g.109317369dup, NC_000003.12:g.109317368_109317369dup, NC_000003.12:g.109317367_109317369dup, NC_000003.12:g.109317366_109317369dup, NC_000003.12:g.109317365_109317369dup, NC_000003.12:g.109317364_109317369dup, NC_000003.12:g.109317363_109317369dup, NC_000003.12:g.109317362_109317369dup, NC_000003.12:g.109317361_109317369dup, NC_000003.12:g.109317360_109317369dup, NC_000003.12:g.109317359_109317369dup, NC_000003.11:g.109036210_109036216del, NC_000003.11:g.109036211_109036216del, NC_000003.11:g.109036212_109036216del, NC_000003.11:g.109036213_109036216del, NC_000003.11:g.109036214_109036216del, NC_000003.11:g.109036215_109036216del, NC_000003.11:g.109036216del, NC_000003.11:g.109036216dup, NC_000003.11:g.109036215_109036216dup, NC_000003.11:g.109036214_109036216dup, NC_000003.11:g.109036213_109036216dup, NC_000003.11:g.109036212_109036216dup, NC_000003.11:g.109036211_109036216dup, NC_000003.11:g.109036210_109036216dup, NC_000003.11:g.109036209_109036216dup, NC_000003.11:g.109036208_109036216dup, NC_000003.11:g.109036207_109036216dup, NC_000003.11:g.109036206_109036216dup
12.
rs1490986711 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 3:109301769
(GRCh38)
3:109020616
(GRCh37)
- Canonical SPDI:
- NC_000003.12:109301768:G:A,NC_000003.12:109301768:G:T
- Gene:
- DPPA2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000042/11
(TOPMED)
A=0.00005/7
(GnomAD)
T=0.000684/2
(KOREAN)
- HGVS:
13.
rs1490963448 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 3:109302781
(GRCh38)
3:109021628
(GRCh37)
- Canonical SPDI:
- NC_000003.12:109302780:T:G
- Gene:
- DPPA2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
14.
rs1490810318 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 3:109309453
(GRCh38)
3:109028300
(GRCh37)
- Canonical SPDI:
- NC_000003.12:109309452:C:T
- Gene:
- DPPA2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.0005/14
(TOMMO)
- HGVS:
15.
rs1490710121 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAATCTATG>-
[Show Flanks]
- Chromosome:
- 3:109317112
(GRCh38)
3:109035959
(GRCh37)
- Canonical SPDI:
- NC_000003.12:109317100:GAAAATCTATGAAAATCTATG:GAAAATCTATG
- Gene:
- DPPA2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GAAAATCTATG=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
-=0.000014/2
(GnomAD)
- HGVS:
16.
rs1490546113 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 3:109316818
(GRCh38)
3:109035665
(GRCh37)
- Canonical SPDI:
- NC_000003.12:109316817:C:T
- Gene:
- DPPA2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
17.
rs1490347842 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 3:109309530
(GRCh38)
3:109028377
(GRCh37)
- Canonical SPDI:
- NC_000003.12:109309529:A:G
- Gene:
- DPPA2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
G=0.000019/5
(TOPMED)
- HGVS:
18.
rs1489776404 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 3:109305019
(GRCh38)
3:109023866
(GRCh37)
- Canonical SPDI:
- NC_000003.12:109305018:G:T
- Gene:
- DPPA2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
19.
rs1489737259 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 3:109315710
(GRCh38)
3:109034557
(GRCh37)
- Canonical SPDI:
- NC_000003.12:109315709:T:A,NC_000003.12:109315709:T:C
- Gene:
- DPPA2 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.00007/1
(TOMMO)
C=0.00016/1
(1000Genomes)
- HGVS:
20.
rs1489020161 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 3:109299129
(GRCh38)
3:109017976
(GRCh37)
- Canonical SPDI:
- NC_000003.12:109299128:A:G
- Gene:
- DPPA2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS: