SNP Links for Nucleotide (Select 386268040) - SNP

Links from Nucleotide

Items: 1 to 20 of 530

<< First< Prev

Page of 27

Next >Last >>

Select item 14903406841.

rs1490340684 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 3:98001723 (GRCh38)
3:97720568 (GRCh37)
Canonical SPDI:: NC_000003.12:98001723:A:AA
Gene:: GABRR3 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.98001724dup, NC_000003.11:g.97720568dup, NM_001105580.3:c.798dup, NM_001105580.2:c.798dup, NP_001099050.1:p.Val267fs

Select item 14893358402.

rs1489335840 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:98008962 (GRCh38)
3:97727806 (GRCh37)
Canonical SPDI:: NC_000003.12:98008961:C:G
Gene:: GABRR3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.98008962C>G, NC_000003.11:g.97727806C>G, NM_001105580.3:c.607G>C, NM_001105580.2:c.607G>C, NP_001099050.1:p.Glu203Gln

Select item 14870679653.

rs1487067965 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:98001737 (GRCh38)
3:97720581 (GRCh37)
Canonical SPDI:: NC_000003.12:98001736:A:G
Gene:: GABRR3 (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:: NC_000003.12:g.98001737A>G, NC_000003.11:g.97720581A>G, NM_001105580.3:c.785T>C, NM_001105580.2:c.785T>C, NP_001099050.1:p.Val262Ala

Select item 14852270954.

rs1485227095 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:97986936 (GRCh38)
3:97705780 (GRCh37)
Canonical SPDI:: NC_000003.12:97986935:T:C
Gene:: GABRR3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.97986936T>C, NC_000003.11:g.97705780T>C, NM_001105580.3:c.1151A>G, NM_001105580.2:c.1151A>G, NP_001099050.1:p.Asp384Gly

Select item 14839822265.

rs1483982226 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:98025611 (GRCh38)
3:97744455 (GRCh37)
Canonical SPDI:: NC_000003.12:98025610:A:G
Gene:: GABRR3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.98025611A>G, NC_000003.11:g.97744455A>G, NM_001105580.3:c.194T>C, NM_001105580.2:c.194T>C, NP_001099050.1:p.Leu65Pro

Select item 14839802446.

rs1483980244 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 3:98034889 (GRCh38)
3:97753733 (GRCh37)
Canonical SPDI:: NC_000003.12:98034888:C:A,NC_000003.12:98034888:C:T
Gene:: GABRR3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.98034889C>A, NC_000003.12:g.98034889C>T, NC_000003.11:g.97753733C>A, NC_000003.11:g.97753733C>T, NM_001105580.3:c.99G>T, NM_001105580.3:c.99G>A, NM_001105580.2:c.99G>T, NM_001105580.2:c.99G>A

Select item 14827904317.

rs1482790431 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:98035284 (GRCh38)
3:97754128 (GRCh37)
Canonical SPDI:: NC_000003.12:98035283:G:A
Gene:: GABRR3 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0.000084/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.98035284G>A, NC_000003.11:g.97754128G>A, NM_001105580.3:c.-97C>T, NM_001105580.2:c.-97C>T

Select item 14747320558.

rs1474732055 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:97986884 (GRCh38)
3:97705728 (GRCh37)
Canonical SPDI:: NC_000003.12:97986883:T:G
Gene:: GABRR3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.97986884T>G, NC_000003.11:g.97705728T>G, NM_001105580.3:c.1203A>C, NM_001105580.2:c.1203A>C

Select item 14710490569.

rs1471049056 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:98001692 (GRCh38)
3:97720536 (GRCh37)
Canonical SPDI:: NC_000003.12:98001691:G:T
Gene:: GABRR3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.98001692G>T, NC_000003.11:g.97720536G>T, NM_001105580.3:c.830C>A, NM_001105580.2:c.830C>A, NP_001099050.1:p.Pro277Gln

Select item 146632270910.

rs1466322709 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:98007836 (GRCh38)
3:97726680 (GRCh37)
Canonical SPDI:: NC_000003.12:98007835:G:A
Gene:: GABRR3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.00005/1 (ALFA)
HGVS:: NC_000003.12:g.98007836G>A, NC_000003.11:g.97726680G>A, NM_001105580.3:c.682C>T, NM_001105580.2:c.682C>T, NP_001099050.1:p.His228Tyr

Select item 146628079811.

rs1466280798 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:98017655 (GRCh38)
3:97736499 (GRCh37)
Canonical SPDI:: NC_000003.12:98017654:C:T
Gene:: GABRR3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.98017655C>T, NC_000003.11:g.97736499C>T, NM_001105580.3:c.306G>A, NM_001105580.2:c.306G>A, NP_001099050.1:p.Met102Ile

Select item 146585897912.

rs1465858979 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:97986792 (GRCh38)
3:97705636 (GRCh37)
Canonical SPDI:: NC_000003.12:97986791:A:G
Gene:: GABRR3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000003.12:g.97986792A>G, NC_000003.11:g.97705636A>G, NM_001105580.3:c.1295T>C, NM_001105580.2:c.1295T>C, NP_001099050.1:p.Val432Ala

Select item 146523244013.

rs1465232440 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:98025606 (GRCh38)
3:97744450 (GRCh37)
Canonical SPDI:: NC_000003.12:98025605:T:C
Gene:: GABRR3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.98025606T>C, NC_000003.11:g.97744450T>C, NM_001105580.3:c.199A>G, NM_001105580.2:c.199A>G, NP_001099050.1:p.Ile67Val

Select item 146492143714.

rs1464921437 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 3:98025676 (GRCh38)
3:97744520 (GRCh37)
Canonical SPDI:: NC_000003.12:98025675:T:C,NC_000003.12:98025675:T:G
Gene:: GABRR3 (Varview)
Functional Consequence:: missense_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.316609/183 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.98025676T>C, NC_000003.12:g.98025676T>G, NC_000003.11:g.97744520T>C, NC_000003.11:g.97744520T>G, NM_001105580.3:c.129A>G, NM_001105580.3:c.129A>C, NM_001105580.2:c.129A>G, NM_001105580.2:c.129A>C, NP_001099050.1:p.Lys43Asn

Select item 146379715615.

rs1463797156 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 3:98012558 (GRCh38)
3:97731402 (GRCh37)
Canonical SPDI:: NC_000003.12:98012557:TT:T
Gene:: GABRR3 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.98012559del, NC_000003.11:g.97731403del, NM_001105580.3:c.316del, NM_001105580.2:c.316del, NP_001099050.1:p.Thr105_Met106insTer

Select item 146216226116.

rs1462162261 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 3:98008972 (GRCh38)
3:97727816 (GRCh37)
Canonical SPDI:: NC_000003.12:98008971:A:C,NC_000003.12:98008971:A:G
Gene:: GABRR3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (GnomAD)
HGVS:: NC_000003.12:g.98008972A>C, NC_000003.12:g.98008972A>G, NC_000003.11:g.97727816A>C, NC_000003.11:g.97727816A>G, NM_001105580.3:c.597T>G, NM_001105580.3:c.597T>C, NM_001105580.2:c.597T>G, NM_001105580.2:c.597T>C

Select item 146201714817.

rs1462017148 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:97992932 (GRCh38)
3:97711776 (GRCh37)
Canonical SPDI:: NC_000003.12:97992931:A:G
Gene:: GABRR3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.97992932A>G, NC_000003.11:g.97711776A>G, NM_001105580.3:c.1024T>C, NM_001105580.2:c.1024T>C, NP_001099050.1:p.Phe342Leu

Select item 145770990418.

rs1457709904 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:98007894 (GRCh38)
3:97726738 (GRCh37)
Canonical SPDI:: NC_000003.12:98007893:A:G
Gene:: GABRR3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.98007894A>G, NC_000003.11:g.97726738A>G, NM_001105580.3:c.624T>C, NM_001105580.2:c.624T>C

Select item 145512488119.

rs1455124881 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:98017683 (GRCh38)
3:97736527 (GRCh37)
Canonical SPDI:: NC_000003.12:98017682:C:T
Gene:: GABRR3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.98017683C>T, NC_000003.11:g.97736527C>T, NM_001105580.3:c.278G>A, NM_001105580.2:c.278G>A, NP_001099050.1:p.Ser93Asn

Select item 145472685120.

rs1454726851 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:97986950 (GRCh38)
3:97705794 (GRCh37)
Canonical SPDI:: NC_000003.12:97986949:T:G
Gene:: GABRR3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000003.12:g.97986950T>G, NC_000003.11:g.97705794T>G, NM_001105580.3:c.1137A>C, NM_001105580.2:c.1137A>C, NP_001099050.1:p.Gln379His

dbSNP

Result Filters

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Nucleotide

Items: 1 to 20 of 530

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity