Links from Gene
Items: 1 to 20 of 3201
1.
rs1491342449 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TT
[Show Flanks]
- Chromosome:
- 16:3052129
(GRCh38)
16:3102131
(GRCh37)
- Canonical SPDI:
- NC_000016.10:3052129:T:TTT
- Gene:
- MMP25 (Varview), MMP25-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
TTT=0./0
(
ALFA)
TT=0.000008/2
(TOPMED)
- HGVS:
2.
rs1490948775 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 16:3053305
(GRCh38)
16:3103306
(GRCh37)
- Canonical SPDI:
- NC_000016.10:3053304:G:A
- Gene:
- MMP25 (Varview), MMP25-AS1 (Varview), LOC124900372 (Varview)
- Functional Consequence:
- 500B_downstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,non_coding_transcript_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000169/2
(
ALFA)
A=0.00023/32
(GnomAD)
- HGVS:
3.
rs1490925279 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 16:3061049
(GRCh38)
16:3111050
(GRCh37)
- Canonical SPDI:
- NC_000016.10:3061048:A:G
- Gene:
- MMP25 (Varview), MMP25-AS1 (Varview), LOC124900372 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000071/1
(
ALFA)
G=0.000015/4
(TOPMED)
- HGVS:
5.
rs1489991117 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 16:3061310
(GRCh38)
16:3111311
(GRCh37)
- Canonical SPDI:
- NC_000016.10:3061309:A:G
- Gene:
- MMP25-AS1 (Varview), LOC124900372 (Varview)
- Functional Consequence:
- 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)
G=0.000035/1
(TOMMO)
- HGVS:
6.
rs1489764264 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:3060728
(GRCh38)
16:3110729
(GRCh37)
- Canonical SPDI:
- NC_000016.10:3060727:C:T
- Gene:
- MMP25 (Varview), MMP25-AS1 (Varview), LOC124900372 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
8.
rs1489063016 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 16:3052417
(GRCh38)
16:3102418
(GRCh37)
- Canonical SPDI:
- NC_000016.10:3052416:G:A
- Gene:
- MMP25 (Varview), MMP25-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
9.
rs1488499899 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 16:3055113
(GRCh38)
16:3105114
(GRCh37)
- Canonical SPDI:
- NC_000016.10:3055112:A:C
- Gene:
- MMP25 (Varview), MMP25-AS1 (Varview), LOC124900372 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000214/3
(
ALFA)
C=0.000091/24
(TOPMED)
C=0.000136/19
(GnomAD)
- HGVS:
10.
rs1488473914 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:3056428
(GRCh38)
16:3106429
(GRCh37)
- Canonical SPDI:
- NC_000016.10:3056427:C:T
- Gene:
- MMP25 (Varview), MMP25-AS1 (Varview), LOC124900372 (Varview)
- Functional Consequence:
- downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000021/3
(GnomAD)
- HGVS:
11.
rs1487915346 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:3058967
(GRCh38)
16:3108968
(GRCh37)
- Canonical SPDI:
- NC_000016.10:3058966:C:T
- Gene:
- MMP25 (Varview), MMP25-AS1 (Varview), LOC124900372 (Varview)
- Functional Consequence:
- coding_sequence_variant,genic_downstream_transcript_variant,intron_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000142/2
(
ALFA)
T=0.000006/1
(GnomAD_exomes)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
- HGVS:
NC_000016.10:g.3058967C>T, NC_000016.9:g.3108968C>T, NM_022468.5:c.1558C>T, NM_022468.4:c.1558C>T, XM_011522605.3:c.928C>T, XM_011522605.2:c.928C>T, XM_011522605.1:c.928C>T, XM_024450391.2:c.1456C>T, XM_024450391.1:c.1456C>T, XM_024450390.2:c.1129C>T, XM_024450390.1:c.1129C>T, NM_022718.2:c.1558C>T, XM_047434484.1:c.928C>T, NM_022718.1:c.1558C>T, NP_071913.1:p.Pro520Ser, XP_011520907.1:p.Pro310Ser, XP_024306159.1:p.Pro486Ser, XP_024306158.1:p.Pro377Ser, XP_047290440.1:p.Pro310Ser
12.
rs1487852072 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C,T
[Show Flanks]
- Chromosome:
- 16:3053876
(GRCh38)
16:3103877
(GRCh37)
- Canonical SPDI:
- NC_000016.10:3053875:G:A,NC_000016.10:3053875:G:C,NC_000016.10:3053875:G:T
- Gene:
- MMP25 (Varview), MMP25-AS1 (Varview), LOC124900372 (Varview)
- Functional Consequence:
- intron_variant,coding_sequence_variant,genic_upstream_transcript_variant,synonymous_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:
NC_000016.10:g.3053876G>A, NC_000016.10:g.3053876G>C, NC_000016.10:g.3053876G>T, NC_000016.9:g.3103877G>A, NC_000016.9:g.3103877G>C, NC_000016.9:g.3103877G>T, XM_047434998.1:c.900C>T, XM_047434998.1:c.900C>G, XM_047434998.1:c.900C>A, XM_047434999.1:c.900C>T, XM_047434999.1:c.900C>G, XM_047434999.1:c.900C>A, XM_047435000.1:c.900C>T, XM_047435000.1:c.900C>G, XM_047435000.1:c.900C>A
13.
rs1487680613 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 16:3054230
(GRCh38)
16:3104231
(GRCh37)
- Canonical SPDI:
- NC_000016.10:3054229:A:G
- Gene:
- MMP25 (Varview), MMP25-AS1 (Varview), LOC124900372 (Varview)
- Functional Consequence:
- intron_variant,coding_sequence_variant,genic_upstream_transcript_variant,synonymous_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:
14.
rs1487521059 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 16:3054518
(GRCh38)
16:3104519
(GRCh37)
- Canonical SPDI:
- NC_000016.10:3054517:A:C,NC_000016.10:3054517:A:G
- Gene:
- MMP25 (Varview), MMP25-AS1 (Varview), LOC124900372 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant,synonymous_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000048/5
(GnomAD)
G=0.00012/2
(TOMMO)
G=0.161533/472
(KOREAN)
- HGVS:
15.
rs1487477190 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 16:3051654
(GRCh38)
16:3101655
(GRCh37)
- Canonical SPDI:
- NC_000016.10:3051653:C:A
- Gene:
- MMP25 (Varview), MMP25-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
16.
rs1487395692 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 16:3059970
(GRCh38)
16:3109971
(GRCh37)
- Canonical SPDI:
- NC_000016.10:3059969:T:C
- Gene:
- MMP25 (Varview), MMP25-AS1 (Varview), LOC124900372 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000019/5
(TOPMED)
- HGVS:
NC_000016.10:g.3059970T>C, NC_000016.9:g.3109971T>C, NM_022468.5:c.*872T>C, NM_022468.4:c.*872T>C, XM_011522605.3:c.*872T>C, XM_011522605.2:c.*872T>C, XM_011522605.1:c.*872T>C, XM_024450391.2:c.*872T>C, XM_024450391.1:c.*872T>C, XM_024450390.2:c.*872T>C, XM_024450390.1:c.*872T>C, NM_022718.2:c.*412T>C, XM_047434484.1:c.*872T>C, NM_022718.1:c.*412T>C
17.
rs1487291911 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G,T
[Show Flanks]
- Chromosome:
- 16:3059949
(GRCh38)
16:3109950
(GRCh37)
- Canonical SPDI:
- NC_000016.10:3059948:C:A,NC_000016.10:3059948:C:G,NC_000016.10:3059948:C:T
- Gene:
- MMP25 (Varview), MMP25-AS1 (Varview), LOC124900372 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000016.10:g.3059949C>A, NC_000016.10:g.3059949C>G, NC_000016.10:g.3059949C>T, NC_000016.9:g.3109950C>A, NC_000016.9:g.3109950C>G, NC_000016.9:g.3109950C>T, NM_022468.5:c.*851C>A, NM_022468.5:c.*851C>G, NM_022468.5:c.*851C>T, NM_022468.4:c.*851C>A, NM_022468.4:c.*851C>G, NM_022468.4:c.*851C>T, XM_011522605.3:c.*851C>A, XM_011522605.3:c.*851C>G, XM_011522605.3:c.*851C>T, XM_011522605.2:c.*851C>A, XM_011522605.2:c.*851C>G, XM_011522605.2:c.*851C>T, XM_011522605.1:c.*851C>A, XM_011522605.1:c.*851C>G, XM_011522605.1:c.*851C>T, XM_024450391.2:c.*851C>A, XM_024450391.2:c.*851C>G, XM_024450391.2:c.*851C>T, XM_024450391.1:c.*851C>A, XM_024450391.1:c.*851C>G, XM_024450391.1:c.*851C>T, XM_024450390.2:c.*851C>A, XM_024450390.2:c.*851C>G, XM_024450390.2:c.*851C>T, XM_024450390.1:c.*851C>A, XM_024450390.1:c.*851C>G, XM_024450390.1:c.*851C>T, NM_022718.2:c.*391C>A, NM_022718.2:c.*391C>G, NM_022718.2:c.*391C>T, XM_047434484.1:c.*851C>A, XM_047434484.1:c.*851C>G, XM_047434484.1:c.*851C>T, NM_022718.1:c.*391C>A, NM_022718.1:c.*391C>G, NM_022718.1:c.*391C>T
18.
rs1487027512 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 16:3055945
(GRCh38)
16:3105946
(GRCh37)
- Canonical SPDI:
- NC_000016.10:3055944:G:A,NC_000016.10:3055944:G:C
- Gene:
- MMP25 (Varview), MMP25-AS1 (Varview), LOC124900372 (Varview)
- Functional Consequence:
- intron_variant,coding_sequence_variant,missense_variant,5_prime_UTR_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000019/5
(TOPMED)
C=0.000029/4
(GnomAD)
- HGVS:
NC_000016.10:g.3055945G>A, NC_000016.10:g.3055945G>C, NC_000016.9:g.3105946G>A, NC_000016.9:g.3105946G>C, XM_017023561.2:c.860G>A, XM_017023561.2:c.860G>C, XM_017023561.1:c.860G>A, XM_017023561.1:c.860G>C, XM_047434998.1:c.-467C>T, XM_047434998.1:c.-467C>G, XM_047434999.1:c.-467C>T, XM_047434999.1:c.-467C>G, NR_123723.1:n.539C>T, NR_123723.1:n.539C>G, XM_047435000.1:c.-467C>T, XM_047435000.1:c.-467C>G, NM_004142.1:c.548G>A, NM_004142.1:c.548G>C, XP_016879050.1:p.Ser287Asn, XP_016879050.1:p.Ser287Thr
19.
rs1487017221 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 16:3056125
(GRCh38)
16:3106126
(GRCh37)
- Canonical SPDI:
- NC_000016.10:3056124:G:C
- Gene:
- MMP25 (Varview), MMP25-AS1 (Varview), LOC124900372 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000015/4
(TOPMED)
- HGVS:
20.
rs1487010057 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 16:3053294
(GRCh38)
16:3103295
(GRCh37)
- Canonical SPDI:
- NC_000016.10:3053293:A:G
- Gene:
- MMP25 (Varview), MMP25-AS1 (Varview), LOC124900372 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant,intron_variant,downstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000122/2
(
ALFA)
G=0.000029/4
(GnomAD)
G=0.000156/1
(1000Genomes)
- HGVS: