Links from Nucleotide
Items: 1 to 20 of 708
1.
rs1491543005 has merged into rs112663252 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 19:58574425
(GRCh38)
19:59085792
(GRCh37)
- Canonical SPDI:
- NC_000019.10:58574416:TTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000019.10:58574416:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:58574416:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:58574416:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:58574416:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:58574416:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:58574416:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:58574416:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:58574416:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:58574416:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:58574416:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:58574416:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58574416:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58574416:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58574416:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58574416:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58574416:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58574416:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58574416:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58574416:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58574416:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58574416:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58574416:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58574416:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58574416:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58574416:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58574416:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- MZF1 (Varview), CENPBD2P (Varview), MZF1-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTT=0./0
(
ALFA)
-=0.000023/6
(TOPMED)
TTTT=0.053819/31
(NorthernSweden)
- HGVS:
NC_000019.10:g.58574425_58574436del, NC_000019.10:g.58574427_58574436del, NC_000019.10:g.58574428_58574436del, NC_000019.10:g.58574429_58574436del, NC_000019.10:g.58574430_58574436del, NC_000019.10:g.58574431_58574436del, NC_000019.10:g.58574432_58574436del, NC_000019.10:g.58574433_58574436del, NC_000019.10:g.58574434_58574436del, NC_000019.10:g.58574435_58574436del, NC_000019.10:g.58574436del, NC_000019.10:g.58574436dup, NC_000019.10:g.58574435_58574436dup, NC_000019.10:g.58574434_58574436dup, NC_000019.10:g.58574433_58574436dup, NC_000019.10:g.58574432_58574436dup, NC_000019.10:g.58574431_58574436dup, NC_000019.10:g.58574430_58574436dup, NC_000019.10:g.58574429_58574436dup, NC_000019.10:g.58574428_58574436dup, NC_000019.10:g.58574427_58574436dup, NC_000019.10:g.58574425_58574436dup, NC_000019.10:g.58574424_58574436dup, NC_000019.10:g.58574423_58574436dup, NC_000019.10:g.58574422_58574436dup, NC_000019.10:g.58574421_58574436dup, NC_000019.10:g.58574436_58574437insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.59085792_59085803del, NC_000019.9:g.59085794_59085803del, NC_000019.9:g.59085795_59085803del, NC_000019.9:g.59085796_59085803del, NC_000019.9:g.59085797_59085803del, NC_000019.9:g.59085798_59085803del, NC_000019.9:g.59085799_59085803del, NC_000019.9:g.59085800_59085803del, NC_000019.9:g.59085801_59085803del, NC_000019.9:g.59085802_59085803del, NC_000019.9:g.59085803del, NC_000019.9:g.59085803dup, NC_000019.9:g.59085802_59085803dup, NC_000019.9:g.59085801_59085803dup, NC_000019.9:g.59085800_59085803dup, NC_000019.9:g.59085799_59085803dup, NC_000019.9:g.59085798_59085803dup, NC_000019.9:g.59085797_59085803dup, NC_000019.9:g.59085796_59085803dup, NC_000019.9:g.59085795_59085803dup, NC_000019.9:g.59085794_59085803dup, NC_000019.9:g.59085792_59085803dup, NC_000019.9:g.59085791_59085803dup, NC_000019.9:g.59085790_59085803dup, NC_000019.9:g.59085789_59085803dup, NC_000019.9:g.59085788_59085803dup, NC_000019.9:g.59085803_59085804insTTTTTTTTTTTTTTTTTTTTTTTT, NR_027334.2:n.2234_2245del, NR_027334.2:n.2236_2245del, NR_027334.2:n.2237_2245del, NR_027334.2:n.2238_2245del, NR_027334.2:n.2239_2245del, NR_027334.2:n.2240_2245del, NR_027334.2:n.2241_2245del, NR_027334.2:n.2242_2245del, NR_027334.2:n.2243_2245del, NR_027334.2:n.2244_2245del, NR_027334.2:n.2245del, NR_027334.2:n.2245dup, NR_027334.2:n.2244_2245dup, NR_027334.2:n.2243_2245dup, NR_027334.2:n.2242_2245dup, NR_027334.2:n.2241_2245dup, NR_027334.2:n.2240_2245dup, NR_027334.2:n.2239_2245dup, NR_027334.2:n.2238_2245dup, NR_027334.2:n.2237_2245dup, NR_027334.2:n.2236_2245dup, NR_027334.2:n.2234_2245dup, NR_027334.2:n.2233_2245dup, NR_027334.2:n.2232_2245dup, NR_027334.2:n.2231_2245dup, NR_027334.2:n.2230_2245dup, NR_027334.2:n.2245_2246insTTTTTTTTTTTTTTTTTTTTTTTT
2.
rs1489561275 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:58572657
(GRCh38)
19:59084024
(GRCh37)
- Canonical SPDI:
- NC_000019.10:58572656:G:A
- Gene:
- MZF1 (Varview), MZF1-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
A=0.000007/1
(GnomAD)
A=0.000007/1
(GnomAD_exomes)
- HGVS:
3.
rs1489414759 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:58573745
(GRCh38)
19:59085112
(GRCh37)
- Canonical SPDI:
- NC_000019.10:58573744:C:T
- Gene:
- MZF1 (Varview), CENPBD2P (Varview), MZF1-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,upstream_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:
4.
rs1488406031 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 19:58572765
(GRCh38)
19:59084132
(GRCh37)
- Canonical SPDI:
- NC_000019.10:58572764:G:C
- Gene:
- MZF1 (Varview), MZF1-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
5.
rs1487455949 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 19:58573127
(GRCh38)
19:59084494
(GRCh37)
- Canonical SPDI:
- NC_000019.10:58573126:G:C
- Gene:
- MZF1 (Varview), MZF1-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
NC_000019.10:g.58573127G>C, NC_000019.9:g.59084494G>C, XM_005259204.4:c.-160C>G, XM_005259204.3:c.-160C>G, XM_005259204.2:c.-160C>G, XM_005259204.1:c.-160C>G, NM_198055.2:c.-113C>G, NM_198055.1:c.-113C>G, NR_027334.2:n.936G>C, NM_001267033.2:c.-113C>G, NM_001267033.1:c.-113C>G
6.
rs1486957500 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 19:58572635
(GRCh38)
19:59084002
(GRCh37)
- Canonical SPDI:
- NC_000019.10:58572634:C:A,NC_000019.10:58572634:C:T
- Gene:
- MZF1 (Varview), MZF1-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
- HGVS:
NC_000019.10:g.58572635C>A, NC_000019.10:g.58572635C>T, NC_000019.9:g.59084002C>A, NC_000019.9:g.59084002C>T, XM_005259204.4:c.-3G>T, XM_005259204.4:c.-3G>A, XM_005259204.3:c.-3G>T, XM_005259204.3:c.-3G>A, XM_005259204.2:c.-3G>T, XM_005259204.2:c.-3G>A, XM_005259204.1:c.-3G>T, XM_005259204.1:c.-3G>A, NR_027334.2:n.537C>A, NR_027334.2:n.537C>T, XM_047439312.1:c.-3G>T, XM_047439312.1:c.-3G>A, XM_047439313.1:c.-3G>T, XM_047439313.1:c.-3G>A
8.
rs1485875787 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:58571943
(GRCh38)
19:59083310
(GRCh37)
- Canonical SPDI:
- NC_000019.10:58571942:C:T
- Gene:
- MZF1 (Varview), MZF1-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000015/4
(TOPMED)
- HGVS:
9.
rs1485100524 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:58559202
(GRCh38)
19:59070569
(GRCh37)
- Canonical SPDI:
- NC_000019.10:58559201:A:G
- Gene:
- UBE2M (Varview), MZF1-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000108/2
(
ALFA)
G=0.000026/7
(TOPMED)
G=0.000029/4
(GnomAD)
G=0.000223/1
(Estonian)
- HGVS:
10.
rs1483646181 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 19:58568995
(GRCh38)
19:59080362
(GRCh37)
- Canonical SPDI:
- NC_000019.10:58568994:T:C
- Gene:
- MZF1 (Varview), MZF1-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
C=0.000015/4
(TOPMED)
- HGVS:
11.
rs1483421840 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 19:58573179
(GRCh38)
19:59084546
(GRCh37)
- Canonical SPDI:
- NC_000019.10:58573178:A:C
- Gene:
- MZF1 (Varview), MZF1-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000674/8
(
ALFA)
C=0.000093/12
(GnomAD)
C=0.001638/3
(Korea1K)
C=0.014403/42
(KOREAN)
A=0.5/1
(SGDP_PRJ)
- HGVS:
NC_000019.10:g.58573179A>C, NC_000019.9:g.59084546A>C, XM_005259204.4:c.-212T>G, XM_005259204.3:c.-212T>G, XM_005259204.2:c.-212T>G, XM_005259204.1:c.-212T>G, NM_198055.2:c.-165T>G, NM_198055.1:c.-165T>G, NR_027334.2:n.988A>C, NM_001267033.2:c.-165T>G, NM_001267033.1:c.-165T>G
13.
rs1480504302 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 19:58572673
(GRCh38)
19:59084041
(GRCh37)
- Canonical SPDI:
- NC_000019.10:58572673:GGGGG:GGGGGG
- Gene:
- MZF1 (Varview), MZF1-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency
- MAF:
G=0.000007/1
(GnomAD_exomes)
- HGVS:
14.
rs1479903653 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 19:58574298
(GRCh38)
19:59085665
(GRCh37)
- Canonical SPDI:
- NC_000019.10:58574297:C:G
- Gene:
- MZF1 (Varview), CENPBD2P (Varview), MZF1-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
15.
rs1479793227 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 19:58573424
(GRCh38)
19:59084791
(GRCh37)
- Canonical SPDI:
- NC_000019.10:58573423:T:C
- Gene:
- MZF1 (Varview), CENPBD2P (Varview), MZF1-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
- HGVS:
NC_000019.10:g.58573424T>C, NC_000019.9:g.59084791T>C, XM_011527264.4:c.-128A>G, XM_011527264.3:c.-128A>G, XM_011527264.2:c.-128A>G, XM_011527264.1:c.-128A>G, NM_003422.3:c.-92A>G, NM_003422.2:c.-92A>G, NR_027334.2:n.1233T>C, NM_198055.1:c.-410A>G, XM_047439312.1:c.-139A>G, NM_001267033.1:c.-410A>G
16.
rs1478915763 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GAGACAGA>-
[Show Flanks]
- Chromosome:
- 19:58573853
(GRCh38)
19:59085220
(GRCh37)
- Canonical SPDI:
- NC_000019.10:58573841:AGAGAGACAGAGAGACAGA:AGAGAGACAGA
- Gene:
- MZF1 (Varview), CENPBD2P (Varview), MZF1-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
AGAGAGACAGA=0.000071/1
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
17.
rs1478660979 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 19:58573069
(GRCh38)
19:59084436
(GRCh37)
- Canonical SPDI:
- NC_000019.10:58573068:G:A,NC_000019.10:58573068:G:T
- Gene:
- MZF1 (Varview), MZF1-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
NC_000019.10:g.58573069G>A, NC_000019.10:g.58573069G>T, NC_000019.9:g.59084436G>A, NC_000019.9:g.59084436G>T, XM_005259204.4:c.-102C>T, XM_005259204.4:c.-102C>A, XM_005259204.3:c.-102C>T, XM_005259204.3:c.-102C>A, XM_005259204.2:c.-102C>T, XM_005259204.2:c.-102C>A, XM_005259204.1:c.-102C>T, XM_005259204.1:c.-102C>A, NM_198055.2:c.-55C>T, NM_198055.2:c.-55C>A, NM_198055.1:c.-55C>T, NM_198055.1:c.-55C>A, NR_027334.2:n.878G>A, NR_027334.2:n.878G>T, NM_001267033.2:c.-55C>T, NM_001267033.2:c.-55C>A, NM_001267033.1:c.-55C>T, NM_001267033.1:c.-55C>A
18.
rs1477935423 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:58573519
(GRCh38)
19:59084886
(GRCh37)
- Canonical SPDI:
- NC_000019.10:58573518:C:T
- Gene:
- MZF1 (Varview), CENPBD2P (Varview), MZF1-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_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_000019.10:g.58573519C>T, NC_000019.9:g.59084886C>T, XM_011527264.4:c.-223G>A, XM_011527264.3:c.-223G>A, XM_011527264.2:c.-223G>A, XM_011527264.1:c.-223G>A, NM_003422.3:c.-187G>A, NM_003422.2:c.-187G>A, NR_027334.2:n.1328C>T, NM_198055.1:c.-505G>A, XM_047439312.1:c.-234G>A, NM_001267033.1:c.-505G>A
19.
rs1477125837 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:58559243
(GRCh38)
19:59070610
(GRCh37)
- Canonical SPDI:
- NC_000019.10:58559242:G:A
- Gene:
- UBE2M (Varview), MZF1-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
20.
rs1476703785 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 19:58572938
(GRCh38)
19:59084305
(GRCh37)
- Canonical SPDI:
- NC_000019.10:58572937:C:G,NC_000019.10:58572937:C:T
- Gene:
- MZF1 (Varview), MZF1-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS: