SNP Links for Protein (Select 157389018) - SNP

Links from Protein

Items: 1 to 20 of 482

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Select item 14895299811.

rs1489529981 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:161688991 (GRCh38)
5:161115997 (GRCh37)
Canonical SPDI:: NC_000005.10:161688990:G:A
Gene:: GABRA6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.0002/1 (ALFA)
A=0.0002/1 (Estonian)
HGVS:: NC_000005.10:g.161688991G>A, NC_000005.9:g.161115997G>A, NM_000811.3:c.268G>A, NM_000811.2:c.268G>A, NP_000802.2:p.Glu90Lys

Select item 14884220832.

rs1488422083 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:161701521 (GRCh38)
5:161128527 (GRCh37)
Canonical SPDI:: NC_000005.10:161701520:G:C
Gene:: GABRA6 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.161701521G>C, NC_000005.9:g.161128527G>C, NM_000811.3:c.1110G>C, NM_000811.2:c.1110G>C

Select item 14864989153.

rs1486498915 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:161689046 (GRCh38)
5:161116052 (GRCh37)
Canonical SPDI:: NC_000005.10:161689045:T:C
Gene:: GABRA6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.161689046T>C, NC_000005.9:g.161116052T>C, NM_000811.3:c.323T>C, NM_000811.2:c.323T>C, NP_000802.2:p.Val108Ala

Select item 14847585894.

rs1484758589 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:161692002 (GRCh38)
5:161119008 (GRCh37)
Canonical SPDI:: NC_000005.10:161692001:A:G
Gene:: GABRA6 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000005.10:g.161692002A>G, NC_000005.9:g.161119008A>G, NM_000811.3:c.888A>G, NM_000811.2:c.888A>G

Select item 14705841885.

rs1470584188 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:161689316 (GRCh38)
5:161116322 (GRCh37)
Canonical SPDI:: NC_000005.10:161689315:G:T
Gene:: GABRA6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.161689316G>T, NC_000005.9:g.161116322G>T, NM_000811.3:c.509G>T, NM_000811.2:c.509G>T, NP_000802.2:p.Cys170Phe

Select item 14704417456.

rs1470441745 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:161686939 (GRCh38)
5:161113945 (GRCh37)
Canonical SPDI:: NC_000005.10:161686938:C:T
Gene:: GABRA6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
T=0.000035/1 (TOMMO)
HGVS:: NC_000005.10:g.161686939C>T, NC_000005.9:g.161113945C>T, NM_000811.3:c.161C>T, NM_000811.2:c.161C>T, NP_000802.2:p.Ala54Val

Select item 14647849577.

rs1464784957 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 5:161689001 (GRCh38)
5:161116007 (GRCh37)
Canonical SPDI:: NC_000005.10:161689000:A:T
Gene:: GABRA6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.161689001A>T, NC_000005.9:g.161116007A>T, NM_000811.3:c.278A>T, NM_000811.2:c.278A>T, NP_000802.2:p.Lys93Met

Select item 14626661918.

rs1462666191 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:161686298 (GRCh38)
5:161113304 (GRCh37)
Canonical SPDI:: NC_000005.10:161686297:T:C
Gene:: GABRA6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000005.10:g.161686298T>C, NC_000005.9:g.161113304T>C, NM_000811.3:c.107T>C, NM_000811.2:c.107T>C, NP_000802.2:p.Leu36Pro

Select item 14542337549.

rs1454233754 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 5:161692083 (GRCh38)
5:161119089 (GRCh37)
Canonical SPDI:: NC_000005.10:161692082:T:G
Gene:: GABRA6 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000005.10:g.161692083T>G, NC_000005.9:g.161119089T>G, NM_000811.3:c.969T>G, NM_000811.2:c.969T>G

Select item 145250456410.

rs1452504564 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:161692075 (GRCh38)
5:161119081 (GRCh37)
Canonical SPDI:: NC_000005.10:161692074:T:C
Gene:: GABRA6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.161692075T>C, NC_000005.9:g.161119081T>C, NM_000811.3:c.961T>C, NM_000811.2:c.961T>C, NP_000802.2:p.Phe321Leu

Select item 145045144811.

rs1450451448 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:161686299 (GRCh38)
5:161113305 (GRCh37)
Canonical SPDI:: NC_000005.10:161686298:G:A
Gene:: GABRA6 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.161686299G>A, NC_000005.9:g.161113305G>A, NM_000811.3:c.108G>A, NM_000811.2:c.108G>A

Select item 144972945512.

rs1449729455 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 5:161690314 (GRCh38)
5:161117321 (GRCh37)
Canonical SPDI:: NC_000005.10:161690314:GG:GGG
Gene:: GABRA6 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGG=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.161690316dup, NC_000005.9:g.161117322dup, NM_000811.3:c.789dup, NM_000811.2:c.789dup, NP_000802.2:p.Ile264fs

Select item 144816742813.

rs1448167428 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:161701599 (GRCh38)
5:161128605 (GRCh37)
Canonical SPDI:: NC_000005.10:161701598:C:G
Gene:: GABRA6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.161701599C>G, NC_000005.9:g.161128605C>G, NM_000811.3:c.1188C>G, NM_000811.2:c.1188C>G, NP_000802.2:p.Ile396Met

Select item 144801946514.

rs1448019465 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:161686950 (GRCh38)
5:161113956 (GRCh37)
Canonical SPDI:: NC_000005.10:161686949:G:A
Gene:: GABRA6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.161686950G>A, NC_000005.9:g.161113956G>A, NM_000811.3:c.172G>A, NM_000811.2:c.172G>A, NP_000802.2:p.Val58Ile

Select item 144749722915.

rs1447497229 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 5:161692113 (GRCh38)
5:161119119 (GRCh37)
Canonical SPDI:: NC_000005.10:161692112:G:A,NC_000005.10:161692112:G:C
Gene:: GABRA6 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.000094/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.161692113G>A, NC_000005.10:g.161692113G>C, NC_000005.9:g.161119119G>A, NC_000005.9:g.161119119G>C, NM_000811.3:c.999G>A, NM_000811.3:c.999G>C, NM_000811.2:c.999G>A, NM_000811.2:c.999G>C, NP_000802.2:p.Gln333His

Select item 144708972716.

rs1447089727 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 5:161689718 (GRCh38)
5:161116724 (GRCh37)
Canonical SPDI:: NC_000005.10:161689717:C:A,NC_000005.10:161689717:C:T
Gene:: GABRA6 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000066/1 (ALFA)
T=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000005.10:g.161689718C>A, NC_000005.10:g.161689718C>T, NC_000005.9:g.161116724C>A, NC_000005.9:g.161116724C>T, NM_000811.3:c.612C>A, NM_000811.3:c.612C>T, NM_000811.2:c.612C>A, NM_000811.2:c.612C>T, NP_000802.2:p.Ser204Arg

Select item 144521704317.

rs1445217043 [Homo sapiens]

Variant type:: DEL
Alleles:: CTTTC>- [Show Flanks]
Chromosome:: 5:161690309 (GRCh38)
5:161117315 (GRCh37)
Canonical SPDI:: NC_000005.10:161690308:CTTTC:
Gene:: GABRA6 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.161690309_161690313del, NC_000005.9:g.161117315_161117319del, NM_000811.3:c.782_786del, NM_000811.2:c.782_786del, NP_000802.2:p.Ser261fs

Select item 144515790118.

rs1445157901 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:161686312 (GRCh38)
5:161113318 (GRCh37)
Canonical SPDI:: NC_000005.10:161686311:G:C
Gene:: GABRA6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.161686312G>C, NC_000005.9:g.161113318G>C, NM_000811.3:c.121G>C, NM_000811.2:c.121G>C, NP_000802.2:p.Glu41Gln

Select item 144147035919.

rs1441470359 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:161690281 (GRCh38)
5:161117287 (GRCh37)
Canonical SPDI:: NC_000005.10:161690280:A:G
Gene:: GABRA6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.161690281A>G, NC_000005.9:g.161117287A>G, NM_000811.3:c.754A>G, NM_000811.2:c.754A>G, NP_000802.2:p.Ile252Val

Select item 143849924220.

rs1438499242 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:161692051 (GRCh38)
5:161119057 (GRCh37)
Canonical SPDI:: NC_000005.10:161692050:T:C
Gene:: GABRA6 (Varview)
Functional Consequence:: 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)
HGVS:: NC_000005.10:g.161692051T>C, NC_000005.9:g.161119057T>C, NM_000811.3:c.937T>C, NM_000811.2:c.937T>C, NP_000802.2:p.Phe313Leu

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