Links from Gene
Items: 1 to 20 of 1000
1.
rs1491213737 has merged into rs61547889 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CACACACACACACA>-,CA,CACA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACA
[Show Flanks]
- Chromosome:
- 2:157324107
(GRCh38)
2:158180619
(GRCh37)
- Canonical SPDI:
- NC_000002.12:157324093:ACACACACACACACACACACACACACA:ACACACACACACA,NC_000002.12:157324093:ACACACACACACACACACACACACACA:ACACACACACACACA,NC_000002.12:157324093:ACACACACACACACACACACACACACA:ACACACACACACACACA,NC_000002.12:157324093:ACACACACACACACACACACACACACA:ACACACACACACACACACA,NC_000002.12:157324093:ACACACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000002.12:157324093:ACACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000002.12:157324093:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000002.12:157324093:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000002.12:157324093:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000002.12:157324093:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA,NC_000002.12:157324093:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA,NC_000002.12:157324093:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA,NC_000002.12:157324093:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA,NC_000002.12:157324093:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:157324093:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:157324093:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:157324093:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:157324093:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:157324093:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:157324093:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:157324093:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:157324093:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:157324093:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA
- Gene:
- ERMN (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACACACACACA=0./0
(
ALFA)
AC=0.025/1
(GENOME_DK)
- HGVS:
NC_000002.12:g.157324095CA[6], NC_000002.12:g.157324095CA[7], NC_000002.12:g.157324095CA[8], NC_000002.12:g.157324095CA[9], NC_000002.12:g.157324095CA[10], NC_000002.12:g.157324095CA[11], NC_000002.12:g.157324095CA[12], NC_000002.12:g.157324095CA[14], NC_000002.12:g.157324095CA[15], NC_000002.12:g.157324095CA[16], NC_000002.12:g.157324095CA[17], NC_000002.12:g.157324095CA[18], NC_000002.12:g.157324095CA[19], NC_000002.12:g.157324095CA[20], NC_000002.12:g.157324095CA[21], NC_000002.12:g.157324095CA[22], NC_000002.12:g.157324095CA[23], NC_000002.12:g.157324095CA[24], NC_000002.12:g.157324095CA[25], NC_000002.12:g.157324095CA[26], NC_000002.12:g.157324095CA[27], NC_000002.12:g.157324095CA[28], NC_000002.12:g.157324095CA[29], NC_000002.11:g.158180607CA[6], NC_000002.11:g.158180607CA[7], NC_000002.11:g.158180607CA[8], NC_000002.11:g.158180607CA[9], NC_000002.11:g.158180607CA[10], NC_000002.11:g.158180607CA[11], NC_000002.11:g.158180607CA[12], NC_000002.11:g.158180607CA[14], NC_000002.11:g.158180607CA[15], NC_000002.11:g.158180607CA[16], NC_000002.11:g.158180607CA[17], NC_000002.11:g.158180607CA[18], NC_000002.11:g.158180607CA[19], NC_000002.11:g.158180607CA[20], NC_000002.11:g.158180607CA[21], NC_000002.11:g.158180607CA[22], NC_000002.11:g.158180607CA[23], NC_000002.11:g.158180607CA[24], NC_000002.11:g.158180607CA[25], NC_000002.11:g.158180607CA[26], NC_000002.11:g.158180607CA[27], NC_000002.11:g.158180607CA[28], NC_000002.11:g.158180607CA[29]
2.
rs1491060465 has merged into rs762341008 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GC>-,GCGC
[Show Flanks]
- Chromosome:
- 2:157322246
(GRCh38)
2:158178758
(GRCh37)
- Canonical SPDI:
- NC_000002.12:157322244:CGC:C,NC_000002.12:157322244:CGC:CGCGC
- Gene:
- ERMN (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CGCGC=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
3.
rs1490547840 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C,T
[Show Flanks]
- Chromosome:
- 2:157323844
(GRCh38)
2:158180356
(GRCh37)
- Canonical SPDI:
- NC_000002.12:157323843:G:C,NC_000002.12:157323843:G:T
- Gene:
- ERMN (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.00007/1
(
ALFA)
T=0.00022/1
(Estonian)
- HGVS:
4.
rs1490056935 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:157322655
(GRCh38)
2:158179167
(GRCh37)
- Canonical SPDI:
- NC_000002.12:157322654:A:G
- Gene:
- ERMN (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
G=0.000007/1
(GnomAD)
- HGVS:
5.
rs1489775522 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:157324540
(GRCh38)
2:158181052
(GRCh37)
- Canonical SPDI:
- NC_000002.12:157324539:C:T
- Gene:
- ERMN (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
6.
rs1489555493 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:157329576
(GRCh38)
2:158186088
(GRCh37)
- Canonical SPDI:
- NC_000002.12:157329575:A:G
- Gene:
- ERMN (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000045/12
(TOPMED)
G=0.000064/9
(GnomAD)
- HGVS:
7.
rs1489515237 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 2:157325992
(GRCh38)
2:158182504
(GRCh37)
- Canonical SPDI:
- NC_000002.12:157325991:G:A,NC_000002.12:157325991:G:C
- Gene:
- ERMN (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.00034/1
(KOREAN)
- HGVS:
8.
rs1489224115 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:157322529
(GRCh38)
2:158179041
(GRCh37)
- Canonical SPDI:
- NC_000002.12:157322528:C:T
- Gene:
- ERMN (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
9.
rs1489172344 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 2:157321545
(GRCh38)
2:158178057
(GRCh37)
- Canonical SPDI:
- NC_000002.12:157321544:C:A
- Gene:
- ERMN (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
NC_000002.12:g.157321545C>A, NC_000002.11:g.158178057C>A, NM_001009959.3:c.620G>T, NM_001009959.2:c.620G>T, NM_001009959.1:c.620G>T, NM_020711.3:c.581G>T, NM_020711.2:c.581G>T, NM_020711.1:c.581G>T, NM_001304345.2:c.581G>T, NM_001304345.1:c.581G>T, NM_001304346.2:c.521G>T, NM_001304346.1:c.521G>T, NM_001304344.2:c.581G>T, NM_001304344.1:c.581G>T, NP_001009959.1:p.Cys207Phe, NP_065762.1:p.Cys194Phe, NP_001291274.1:p.Cys194Phe, NP_001291275.1:p.Cys174Phe, NP_001291273.1:p.Cys194Phe
10.
rs1488575535 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:157328684
(GRCh38)
2:158185196
(GRCh37)
- Canonical SPDI:
- NC_000002.12:157328683:C:T
- Gene:
- ERMN (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.00003/8
(TOPMED)
T=0.000064/9
(GnomAD)
- HGVS:
11.
rs1488455514 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 2:157327757
(GRCh38)
2:158184270
(GRCh37)
- Canonical SPDI:
- NC_000002.12:157327757:CCCC:CCCCC
- Gene:
- ERMN (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCCCC=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000015/4
(TOPMED)
- HGVS:
12.
rs1488434912 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:157329008
(GRCh38)
2:158185520
(GRCh37)
- Canonical SPDI:
- NC_000002.12:157329007:T:C
- Gene:
- ERMN (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000019/5
(TOPMED)
C=0.002396/7
(KOREAN)
C=0.003275/6
(Korea1K)
C=0.005167/87
(TOMMO)
- HGVS:
13.
rs1488382111 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:157321672
(GRCh38)
2:158178184
(GRCh37)
- Canonical SPDI:
- NC_000002.12:157321671:G:A
- Gene:
- ERMN (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
NC_000002.12:g.157321672G>A, NC_000002.11:g.158178184G>A, NM_001009959.3:c.493C>T, NM_001009959.2:c.493C>T, NM_001009959.1:c.493C>T, NM_020711.3:c.454C>T, NM_020711.2:c.454C>T, NM_020711.1:c.454C>T, NM_001304345.2:c.454C>T, NM_001304345.1:c.454C>T, NM_001304346.2:c.394C>T, NM_001304346.1:c.394C>T, NM_001304344.2:c.454C>T, NM_001304344.1:c.454C>T, NP_001009959.1:p.His165Tyr, NP_065762.1:p.His152Tyr, NP_001291274.1:p.His152Tyr, NP_001291275.1:p.His132Tyr, NP_001291273.1:p.His152Tyr
14.
rs1487963887 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:157327453
(GRCh38)
2:158183965
(GRCh37)
- Canonical SPDI:
- NC_000002.12:157327452:A:G
- Gene:
- ERMN (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
15.
rs1487921242 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-
[Show Flanks]
- Chromosome:
- 2:157320037
(GRCh38)
2:158176549
(GRCh37)
- Canonical SPDI:
- NC_000002.12:157320035:TTT:T
- Gene:
- ERMN (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
-=0.000014/2
(GnomAD)
-=0.000015/4
(TOPMED)
- HGVS:
NC_000002.12:g.157320037_157320038del, NC_000002.11:g.158176549_158176550del, NM_001009959.3:c.*1234_*1235del, NM_001009959.2:c.*1234_*1235del, NM_001009959.1:c.*1234_*1235del, NM_020711.3:c.*1234_*1235del, NM_020711.2:c.*1234_*1235del, NM_020711.1:c.*1234_*1235del, NM_001304345.2:c.*1234_*1235del, NM_001304345.1:c.*1234_*1235del, NM_001304346.2:c.*1234_*1235del, NM_001304346.1:c.*1234_*1235del, NM_001304344.2:c.*1234_*1235del, NM_001304344.1:c.*1234_*1235del
16.
rs1487717998 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:157321752
(GRCh38)
2:158178264
(GRCh37)
- Canonical SPDI:
- NC_000002.12:157321751:T:C
- Gene:
- ERMN (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000028/1
(
ALFA)
C=0.000004/1
(GnomAD_exomes)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
NC_000002.12:g.157321752T>C, NC_000002.11:g.158178264T>C, NM_001009959.3:c.413A>G, NM_001009959.2:c.413A>G, NM_001009959.1:c.413A>G, NM_020711.3:c.374A>G, NM_020711.2:c.374A>G, NM_020711.1:c.374A>G, NM_001304345.2:c.374A>G, NM_001304345.1:c.374A>G, NM_001304346.2:c.314A>G, NM_001304346.1:c.314A>G, NM_001304344.2:c.374A>G, NM_001304344.1:c.374A>G, NP_001009959.1:p.Gln138Arg, NP_065762.1:p.Gln125Arg, NP_001291274.1:p.Gln125Arg, NP_001291275.1:p.Gln105Arg, NP_001291273.1:p.Gln125Arg
17.
rs1487708789 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:157325654
(GRCh38)
2:158182166
(GRCh37)
- Canonical SPDI:
- NC_000002.12:157325653:G:A
- Gene:
- ERMN (Varview)
- Functional Consequence:
- stop_gained,5_prime_UTR_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000002.12:g.157325654G>A, NC_000002.11:g.158182166G>A, NM_001009959.3:c.28C>T, NM_001009959.2:c.28C>T, NM_001009959.1:c.28C>T, NM_020711.3:c.-12C>T, NM_020711.2:c.-12C>T, NM_020711.1:c.-12C>T, NM_001304345.2:c.-12C>T, NM_001304345.1:c.-12C>T, NM_001304346.2:c.-12C>T, NM_001304346.1:c.-12C>T, NM_001304344.2:c.-12C>T, NM_001304344.1:c.-12C>T, NP_001009959.1:p.Gln10Ter
18.
rs1487382021 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 2:157325199
(GRCh38)
2:158181711
(GRCh37)
- Canonical SPDI:
- NC_000002.12:157325198:G:C
- Gene:
- ERMN (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000007/1
(GnomAD_exomes)
- HGVS:
19.
rs1487298981 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:157328914
(GRCh38)
2:158185426
(GRCh37)
- Canonical SPDI:
- NC_000002.12:157328913:G:A
- Gene:
- ERMN (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
- HGVS:
20.
rs1487265740 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 2:157325586
(GRCh38)
2:158182098
(GRCh37)
- Canonical SPDI:
- NC_000002.12:157325585:A:C
- Gene:
- ERMN (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000002.12:g.157325586A>C, NC_000002.11:g.158182098A>C, NM_001009959.3:c.96T>G, NM_001009959.2:c.96T>G, NM_001009959.1:c.96T>G, NM_020711.3:c.57T>G, NM_020711.2:c.57T>G, NM_020711.1:c.57T>G, NM_001304345.2:c.57T>G, NM_001304345.1:c.57T>G, NM_001304346.2:c.57T>G, NM_001304346.1:c.57T>G, NM_001304344.2:c.57T>G, NM_001304344.1:c.57T>G