Links from Gene
Items: 1 to 20 of 1124
1.
rs1491225232 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 16:50671141
(GRCh38)
16:50705052
(GRCh37)
- Canonical SPDI:
- NC_000016.10:50671140:AT:
- Gene:
- SNX20 (Varview), LOC101927272 (Varview)
- Functional Consequence:
- downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000008/1
(GnomAD)
- HGVS:
2.
rs1491204344 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TTTT
[Show Flanks]
- Chromosome:
- 16:50671141
(GRCh38)
16:50705053
(GRCh37)
- Canonical SPDI:
- NC_000016.10:50671141:TTT:TTTTTTT
- Gene:
- SNX20 (Varview), LOC101927272 (Varview)
- Functional Consequence:
- downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TTTTTTT=0.0009/4
(
ALFA)
TTTT=0.0004/2
(Estonian)
- HGVS:
3.
rs1490934390 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:50667347
(GRCh38)
16:50701258
(GRCh37)
- Canonical SPDI:
- NC_000016.10:50667346:C:T
- Gene:
- SNX20 (Varview), LOC101927272 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_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.
rs1490450853 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 16:50668315
(GRCh38)
16:50702226
(GRCh37)
- Canonical SPDI:
- NC_000016.10:50668314:T:C
- Gene:
- SNX20 (Varview), LOC101927272 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,3_prime_UTR_variant,upstream_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
5.
rs1489960105 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:50669646
(GRCh38)
16:50703557
(GRCh37)
- Canonical SPDI:
- NC_000016.10:50669645:C:T
- Gene:
- SNX20 (Varview), LOC101927272 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency
- MAF:
T=0.000014/2
(GnomAD)
- HGVS:
6.
rs1489905260 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 16:50667174
(GRCh38)
16:50701085
(GRCh37)
- Canonical SPDI:
- NC_000016.10:50667173:A:G
- Gene:
- SNX20 (Varview), LOC101927272 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
7.
rs1489168998 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 16:50671994
(GRCh38)
16:50705905
(GRCh37)
- Canonical SPDI:
- NC_000016.10:50671993:T:G
- Gene:
- SNX20 (Varview), LOC101927272 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,500B_downstream_variant,intron_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
8.
rs1488753058 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 16:50668130
(GRCh38)
16:50702041
(GRCh37)
- Canonical SPDI:
- NC_000016.10:50668129:A:C
- Gene:
- SNX20 (Varview), LOC101927272 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,3_prime_UTR_variant,upstream_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
C=0.000015/4
(TOPMED)
- HGVS:
9.
rs1488194739 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 16:50668619
(GRCh38)
16:50702530
(GRCh37)
- Canonical SPDI:
- NC_000016.10:50668618:G:A
- Gene:
- SNX20 (Varview), LOC101927272 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,3_prime_UTR_variant,upstream_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000071/1
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
10.
rs1488158859 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- 16:50671752
(GRCh38)
16:50705663
(GRCh37)
- Canonical SPDI:
- NC_000016.10:50671751:A:
- Gene:
- SNX20 (Varview), LOC101927272 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,500B_downstream_variant,intron_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.000285/4
(
ALFA)
-=0.000128/18
(GnomAD)
-=0.000128/34
(TOPMED)
- HGVS:
11.
rs1487768459 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:50671825
(GRCh38)
16:50705736
(GRCh37)
- Canonical SPDI:
- NC_000016.10:50671824:C:T
- Gene:
- SNX20 (Varview), LOC101927272 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,500B_downstream_variant,intron_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
12.
rs1486258833 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 16:50667035
(GRCh38)
16:50700946
(GRCh37)
- Canonical SPDI:
- NC_000016.10:50667034:A:C
- Gene:
- SNX20 (Varview), LOC101927272 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
13.
rs1485877432 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 16:50671244
(GRCh38)
16:50705155
(GRCh37)
- Canonical SPDI:
- NC_000016.10:50671243:G:C
- Gene:
- SNX20 (Varview), LOC101927272 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
14.
rs1485625335 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 16:50669301
(GRCh38)
16:50703212
(GRCh37)
- Canonical SPDI:
- NC_000016.10:50669300:T:A
- Gene:
- SNX20 (Varview), LOC101927272 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
15.
rs1484211339 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 16:50669319
(GRCh38)
16:50703230
(GRCh37)
- Canonical SPDI:
- NC_000016.10:50669318:A:C
- Gene:
- SNX20 (Varview), LOC101927272 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
16.
rs1484142470 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 16:50668165
(GRCh38)
16:50702076
(GRCh37)
- Canonical SPDI:
- NC_000016.10:50668164:A:C
- Gene:
- SNX20 (Varview), LOC101927272 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000021/3
(GnomAD)
- HGVS:
17.
rs1483665651 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 16:50671373
(GRCh38)
16:50705284
(GRCh37)
- Canonical SPDI:
- NC_000016.10:50671372:A:G
- Gene:
- SNX20 (Varview), LOC101927272 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant,non_coding_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:
18.
rs1481988352 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 16:50671077
(GRCh38)
16:50704988
(GRCh37)
- Canonical SPDI:
- NC_000016.10:50671076:C:A,NC_000016.10:50671076:C:T
- Gene:
- SNX20 (Varview), LOC101927272 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
19.
rs1481590246 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 16:50670737
(GRCh38)
16:50704648
(GRCh37)
- Canonical SPDI:
- NC_000016.10:50670736:G:A
- Gene:
- SNX20 (Varview), LOC101927272 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,non_coding_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.
rs1479729718 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 16:50669045
(GRCh38)
16:50702956
(GRCh37)
- Canonical SPDI:
- NC_000016.10:50669044:A:G
- Gene:
- SNX20 (Varview), LOC101927272 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS: