Links from Protein
Items: 1 to 20 of 208
1.
rs1484142755 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:136980276
(GRCh38)
9:139874728
(GRCh37)
- Canonical SPDI:
- NC_000009.12:136980275:C:T
- Gene:
- PTGDS (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
2.
rs1479594944 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 9:136977648
(GRCh38)
9:139872100
(GRCh37)
- Canonical SPDI:
- NC_000009.12:136977647:C:A
- Gene:
- PTGDS (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
3.
rs1478925532 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 9:136978999
(GRCh38)
9:139873451
(GRCh37)
- Canonical SPDI:
- NC_000009.12:136978998:G:C
- Gene:
- PTGDS (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
4.
rs1476959473 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAGGGCC>-
[Show Flanks]
- Chromosome:
- 9:136980023
(GRCh38)
9:139874475
(GRCh37)
- Canonical SPDI:
- NC_000009.12:136980021:CAAGGGCC:C
- Gene:
- PTGDS (Varview)
- Functional Consequence:
- coding_sequence_variant,frameshift_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.000004/1
(GnomAD_exomes)
-=0.000106/2
(TOMMO)
- HGVS:
5.
rs1471892034 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:136979090
(GRCh38)
9:139873542
(GRCh37)
- Canonical SPDI:
- NC_000009.12:136979089:C:T
- Gene:
- PTGDS (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000047/1
(
ALFA)
T=0.000004/1
(GnomAD_exomes)
- HGVS:
6.
rs1468778397 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C,T
[Show Flanks]
- Chromosome:
- 9:136980203
(GRCh38)
9:139874655
(GRCh37)
- Canonical SPDI:
- NC_000009.12:136980202:G:C,NC_000009.12:136980202:G:T
- Gene:
- PTGDS (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000031/1
(
ALFA)
C=0.000004/1
(GnomAD_exomes)
T=0.000007/1
(GnomAD)
- HGVS:
7.
rs1465914990 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 9:136977613
(GRCh38)
9:139872065
(GRCh37)
- Canonical SPDI:
- NC_000009.12:136977612:C:A,NC_000009.12:136977612:C:T
- Gene:
- PTGDS (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000031/1
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
8.
rs1461428930 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:136979953
(GRCh38)
9:139874405
(GRCh37)
- Canonical SPDI:
- NC_000009.12:136979952:C:T
- Gene:
- PTGDS (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000008/2
(GnomAD_exomes)
- HGVS:
9.
rs1460870590 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:136977686
(GRCh38)
9:139872138
(GRCh37)
- Canonical SPDI:
- NC_000009.12:136977685:G:A
- Gene:
- PTGDS (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency
- MAF:
A=0.000005/1
(GnomAD_exomes)
- HGVS:
10.
rs1457682620 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 9:136979985
(GRCh38)
9:139874437
(GRCh37)
- Canonical SPDI:
- NC_000009.12:136979984:A:G
- Gene:
- PTGDS (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
11.
rs1457006219 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:136980012
(GRCh38)
9:139874464
(GRCh37)
- Canonical SPDI:
- NC_000009.12:136980011:G:A
- Gene:
- PTGDS (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
12.
rs1454744827 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 9:136980196
(GRCh38)
9:139874648
(GRCh37)
- Canonical SPDI:
- NC_000009.12:136980195:C:A
- Gene:
- PTGDS (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
13.
rs1450929389 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:136979283
(GRCh38)
9:139873735
(GRCh37)
- Canonical SPDI:
- NC_000009.12:136979282:C:T
- Gene:
- PTGDS (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
14.
rs1446348488 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:136979989
(GRCh38)
9:139874441
(GRCh37)
- Canonical SPDI:
- NC_000009.12:136979988:C:T
- Gene:
- PTGDS (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by cluster
- MAF:
T=0.000004/1
(GnomAD_exomes)
T=0.000071/1
(TOMMO)
- HGVS:
15.
rs1444898374 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:136979089
(GRCh38)
9:139873541
(GRCh37)
- Canonical SPDI:
- NC_000009.12:136979088:C:T
- Gene:
- PTGDS (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
16.
rs1444149735 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:136980226
(GRCh38)
9:139874678
(GRCh37)
- Canonical SPDI:
- NC_000009.12:136980225:C:T
- Gene:
- PTGDS (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000012/3
(GnomAD_exomes)
T=0.000026/7
(TOPMED)
T=0.000029/4
(GnomAD)
- HGVS:
17.
rs1440837528 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 9:136980185
(GRCh38)
9:139874637
(GRCh37)
- Canonical SPDI:
- NC_000009.12:136980184:C:G,NC_000009.12:136980184:C:T
- Gene:
- PTGDS (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant,stop_gained
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(GnomAD_exomes)
G=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
- HGVS:
18.
rs1440555449 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 9:136979249
(GRCh38)
9:139873701
(GRCh37)
- Canonical SPDI:
- NC_000009.12:136979248:T:C
- Gene:
- PTGDS (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(GnomAD_exomes)
C=0.000004/1
(TOPMED)
- HGVS:
19.
rs1439950953 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:136980208
(GRCh38)
9:139874660
(GRCh37)
- Canonical SPDI:
- NC_000009.12:136980207:G:A
- Gene:
- PTGDS (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
20.
rs1439943251 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:136979246
(GRCh38)
9:139873698
(GRCh37)
- Canonical SPDI:
- NC_000009.12:136979245:C:T
- Gene:
- PTGDS (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS: