Links from Nucleotide
Items: 1 to 20 of 137
1.
rs1485952830 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 2:237566595
(GRCh38)
2:238475238
(GRCh37)
- Canonical SPDI:
- NC_000002.12:237566594:C:A
- Gene:
- PRLH (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
A=0.000005/1
(GnomAD_exomes)
- HGVS:
2.
rs1481398208 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:237567170
(GRCh38)
2:238475813
(GRCh37)
- Canonical SPDI:
- NC_000002.12:237567169:G:A
- Gene:
- PRLH (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
3.
rs1479230954 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:237567160
(GRCh38)
2:238475803
(GRCh37)
- Canonical SPDI:
- NC_000002.12:237567159:G:A
- Gene:
- PRLH (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
4.
rs1473626733 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 2:237567086
(GRCh38)
2:238475729
(GRCh37)
- Canonical SPDI:
- NC_000002.12:237567085:A:C,NC_000002.12:237567085:A:G
- Gene:
- PRLH (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
C=0.003821/7
(Korea1K)
- HGVS:
5.
rs1462993959 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:237567105
(GRCh38)
2:238475748
(GRCh37)
- Canonical SPDI:
- NC_000002.12:237567104:A:G
- Gene:
- PRLH (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency
- MAF:
G=0.000004/1
(GnomAD_exomes)
- HGVS:
6.
rs1456915347 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 2:237567126
(GRCh38)
2:238475769
(GRCh37)
- Canonical SPDI:
- NC_000002.12:237567125:T:A
- Gene:
- PRLH (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
7.
rs1450868598 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 2:237567139
(GRCh38)
2:238475782
(GRCh37)
- Canonical SPDI:
- NC_000002.12:237567138:C:G,NC_000002.12:237567138:C:T
- Gene:
- PRLH (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant
- Validated:
- by frequency,by cluster
- MAF:
T=0./0
(GnomAD)
- HGVS:
8.
rs1443944207 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:237566640
(GRCh38)
2:238475283
(GRCh37)
- Canonical SPDI:
- NC_000002.12:237566639:A:G
- Gene:
- PRLH (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
G=0.000006/1
(GnomAD_exomes)
- HGVS:
9.
rs1429712331 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:237567166
(GRCh38)
2:238475809
(GRCh37)
- Canonical SPDI:
- NC_000002.12:237567165:G:A
- Gene:
- PRLH (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
10.
rs1422545053 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 2:237567039
(GRCh38)
2:238475682
(GRCh37)
- Canonical SPDI:
- NC_000002.12:237567038:C:A
- Gene:
- PRLH (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
11.
rs1421155954 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 2:237566669
(GRCh38)
2:238475312
(GRCh37)
- Canonical SPDI:
- NC_000002.12:237566668:C:A
- Gene:
- PRLH (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
13.
rs1414326590 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 2:237566600
(GRCh38)
2:238475243
(GRCh37)
- Canonical SPDI:
- NC_000002.12:237566599:G:A,NC_000002.12:237566599:G:C
- Gene:
- PRLH (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
14.
rs1406779998 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G,T
[Show Flanks]
- Chromosome:
- 2:237567122
(GRCh38)
2:238475765
(GRCh37)
- Canonical SPDI:
- NC_000002.12:237567121:C:A,NC_000002.12:237567121:C:G,NC_000002.12:237567121:C:T
- Gene:
- PRLH (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000028/1
(
ALFA)
A=0.000004/1
(GnomAD_exomes)
T=0.000021/3
(GnomAD)
- HGVS:
NC_000002.12:g.237567122C>A, NC_000002.12:g.237567122C>G, NC_000002.12:g.237567122C>T, NC_000002.11:g.238475765C>A, NC_000002.11:g.238475765C>G, NC_000002.11:g.238475765C>T, NM_015893.1:c.211C>A, NM_015893.1:c.211C>G, NM_015893.1:c.211C>T, NP_056977.1:p.Arg71Gly, NP_056977.1:p.Arg71Trp
15.
rs1366355215 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:237567127
(GRCh38)
2:238475770
(GRCh37)
- Canonical SPDI:
- NC_000002.12:237567126:G:A
- Gene:
- PRLH (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
16.
rs1364601028 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:237566619
(GRCh38)
2:238475262
(GRCh37)
- Canonical SPDI:
- NC_000002.12:237566618:C:T
- Gene:
- PRLH (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000014/2
(GnomAD)
T=0.000015/3
(GnomAD_exomes)
- HGVS:
17.
rs1364017258 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:237567052
(GRCh38)
2:238475695
(GRCh37)
- Canonical SPDI:
- NC_000002.12:237567051:C:T
- Gene:
- PRLH (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
18.
rs1360580606 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:237566574
(GRCh38)
2:238475217
(GRCh37)
- Canonical SPDI:
- NC_000002.12:237566573:A:G
- Gene:
- PRLH (Varview)
- Functional Consequence:
- missense_variant,initiator_codon_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
19.
rs1355467778 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:237566641
(GRCh38)
2:238475284
(GRCh37)
- Canonical SPDI:
- NC_000002.12:237566640:G:A
- Gene:
- PRLH (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
A=0.000019/5
(TOPMED)
- HGVS: