Links from Protein
Items: 1 to 20 of 162
1.
rs1490803041 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:55789125
(GRCh38)
12:56182909
(GRCh37)
- Canonical SPDI:
- NC_000012.12:55789124:T:C
- Gene:
- SARNP (Varview)
- Functional Consequence:
- non_coding_transcript_variant,coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(GnomAD_exomes)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
2.
rs1489552392 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 12:55760624
(GRCh38)
12:56154408
(GRCh37)
- Canonical SPDI:
- NC_000012.12:55760623:T:A
- Gene:
- SARNP (Varview)
- Functional Consequence:
- non_coding_transcript_variant,coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
3.
rs1486327162 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:55760573
(GRCh38)
12:56154357
(GRCh37)
- Canonical SPDI:
- NC_000012.12:55760572:G:A
- Gene:
- SARNP (Varview)
- Functional Consequence:
- non_coding_transcript_variant,coding_sequence_variant,missense_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
4.
rs1480995203 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 12:55803694
(GRCh38)
12:56197478
(GRCh37)
- Canonical SPDI:
- NC_000012.12:55803693:C:A
- Gene:
- SARNP (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant,non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
5.
rs1476842893 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:55760587
(GRCh38)
12:56154371
(GRCh37)
- Canonical SPDI:
- NC_000012.12:55760586:T:C
- Gene:
- SARNP (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
6.
rs1462990782 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:55760564
(GRCh38)
12:56154348
(GRCh37)
- Canonical SPDI:
- NC_000012.12:55760563:G:A
- Gene:
- SARNP (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant,non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
7.
rs1462562089 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:55796068
(GRCh38)
12:56189852
(GRCh37)
- Canonical SPDI:
- NC_000012.12:55796067:T:C
- Gene:
- SARNP (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000015/4
(TOPMED)
- HGVS:
8.
rs1457207174 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:55790582
(GRCh38)
12:56184366
(GRCh37)
- Canonical SPDI:
- NC_000012.12:55790581:A:G
- Gene:
- SARNP (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000028/1
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000011/3
(TOPMED)
G=0.000015/3
(GnomAD_exomes)
- HGVS:
9.
rs1435984623 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 12:55789116
(GRCh38)
12:56182900
(GRCh37)
- Canonical SPDI:
- NC_000012.12:55789115:C:A
- Gene:
- SARNP (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
10.
rs1435666925 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 12:55800573
(GRCh38)
12:56194357
(GRCh37)
- Canonical SPDI:
- NC_000012.12:55800572:T:A
- Gene:
- SARNP (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
12.
rs1421439234 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:55803719
(GRCh38)
12:56197503
(GRCh37)
- Canonical SPDI:
- NC_000012.12:55803718:G:A
- Gene:
- SARNP (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
13.
rs1417465604 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 12:55760576
(GRCh38)
12:56154360
(GRCh37)
- Canonical SPDI:
- NC_000012.12:55760575:C:A
- Gene:
- SARNP (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant,non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
14.
rs1413748371 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 12:55760568
(GRCh38)
12:56154352
(GRCh37)
- Canonical SPDI:
- NC_000012.12:55760567:T:G
- Gene:
- SARNP (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
15.
rs1412906511 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 12:55796029
(GRCh38)
12:56189813
(GRCh37)
- Canonical SPDI:
- NC_000012.12:55796028:G:C
- Gene:
- SARNP (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
16.
rs1397571920 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:55796049
(GRCh38)
12:56189833
(GRCh37)
- Canonical SPDI:
- NC_000012.12:55796048:A:G
- Gene:
- SARNP (Varview)
- Functional Consequence:
- synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
17.
rs1387093950 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:55803728
(GRCh38)
12:56197512
(GRCh37)
- Canonical SPDI:
- NC_000012.12:55803727:G:A
- Gene:
- SARNP (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(GnomAD_exomes)
A=0.000008/2
(TOPMED)
- HGVS:
18.
rs1385905517 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:55794854
(GRCh38)
12:56188638
(GRCh37)
- Canonical SPDI:
- NC_000012.12:55794853:G:A
- Gene:
- SARNP (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
19.
rs1379349489 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 12:55817697
(GRCh38)
12:56211481
(GRCh37)
- Canonical SPDI:
- NC_000012.12:55817696:G:A,NC_000012.12:55817696:G:C
- Gene:
- ORMDL2 (Varview), SARNP (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
- HGVS:
NC_000012.12:g.55817697G>A, NC_000012.12:g.55817697G>C, NC_000012.11:g.56211481G>A, NC_000012.11:g.56211481G>C, NM_033082.4:c.5C>T, NM_033082.4:c.5C>G, NM_033082.3:c.5C>T, NM_033082.3:c.5C>G, NR_026723.2:n.28C>T, NR_026723.2:n.28C>G, NR_026723.1:n.60C>T, NR_026723.1:n.60C>G, NR_026722.2:n.28C>T, NR_026722.2:n.28C>G, NR_026722.1:n.60C>T, NR_026722.1:n.60C>G, NP_149073.1:p.Ala2Val, NP_149073.1:p.Ala2Gly
20.
rs1367411502 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:55794846
(GRCh38)
12:56188630
(GRCh37)
- Canonical SPDI:
- NC_000012.12:55794845:G:A
- Gene:
- SARNP (Varview)
- Functional Consequence:
- coding_sequence_variant,non_coding_transcript_variant,missense_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS: