Links from Protein
Items: 1 to 20 of 361
1.
rs1489569815 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 17:39605522
(GRCh38)
17:37761775
(GRCh37)
- Canonical SPDI:
- NC_000017.11:39605521:A:G
- Gene:
- NEUROD2 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
- HGVS:
6.
rs1483406536 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 17:39606498
(GRCh38)
17:37762751
(GRCh37)
- Canonical SPDI:
- NC_000017.11:39606497:G:A,NC_000017.11:39606497:G:T
- Gene:
- NEUROD2 (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000044/1
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000011/3
(TOPMED)
- HGVS:
7.
rs1482364255 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 17:39605880
(GRCh38)
17:37762133
(GRCh37)
- Canonical SPDI:
- NC_000017.11:39605879:C:A,NC_000017.11:39605879:C:T
- Gene:
- NEUROD2 (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
8.
rs1482202826 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 17:39605688
(GRCh38)
17:37761941
(GRCh37)
- Canonical SPDI:
- NC_000017.11:39605687:A:G
- Gene:
- NEUROD2 (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(GnomAD_exomes)
G=0.000009/1
(ExAC)
G=0.000011/3
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
9.
rs1482152529 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 17:39606137
(GRCh38)
17:37762390
(GRCh37)
- Canonical SPDI:
- NC_000017.11:39606136:G:C
- Gene:
- NEUROD2 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
10.
rs1478936153 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 17:39605951
(GRCh38)
17:37762204
(GRCh37)
- Canonical SPDI:
- NC_000017.11:39605950:T:A,NC_000017.11:39605950:T:C
- Gene:
- NEUROD2 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000031/1
(
ALFA)
A=0./0
(GnomAD)
C=0.000008/2
(GnomAD_exomes)
- HGVS:
12.
rs1472994504 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 17:39606456
(GRCh38)
17:37762709
(GRCh37)
- Canonical SPDI:
- NC_000017.11:39606455:A:G
- Gene:
- NEUROD2 (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
G=0.000008/1
(GnomAD_exomes)
- HGVS:
14.
rs1472594676 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 17:39605886
(GRCh38)
17:37762139
(GRCh37)
- Canonical SPDI:
- NC_000017.11:39605885:G:T
- Gene:
- NEUROD2 (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
15.
rs1472009544 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 17:39606164
(GRCh38)
17:37762417
(GRCh37)
- Canonical SPDI:
- NC_000017.11:39606163:T:G
- Gene:
- NEUROD2 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency
- MAF:
G=0.000004/1
(GnomAD_exomes)
- HGVS:
16.
rs1470550290 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 17:39606575
(GRCh38)
17:37762828
(GRCh37)
- Canonical SPDI:
- NC_000017.11:39606574:G:T
- Gene:
- NEUROD2 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000023/6
(TOPMED)
T=0.000029/4
(GnomAD)
- HGVS:
18.
rs1465999912 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 17:39606393
(GRCh38)
17:37762646
(GRCh37)
- Canonical SPDI:
- NC_000017.11:39606392:C:G
- Gene:
- NEUROD2 (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant
- Validated:
- by frequency,by cluster
- MAF:
G=0.000007/1
(GnomAD)
- HGVS:
19.
rs1465301215 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 17:39605507
(GRCh38)
17:37761760
(GRCh37)
- Canonical SPDI:
- NC_000017.11:39605506:G:C
- Gene:
- NEUROD2 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
20.
rs1463239857 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 17:39605620
(GRCh38)
17:37761873
(GRCh37)
- Canonical SPDI:
- NC_000017.11:39605619:A:G
- Gene:
- NEUROD2 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by cluster
- MAF:
G=0.000004/1
(GnomAD_exomes)
- HGVS: