SNP Links for Nucleotide (Select 189083722) - SNP

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:161847409 (GRCh38)
5:161274415 (GRCh37)
Canonical SPDI:: NC_000005.10:161847408:G:A
Gene:: GABRA1 (Varview), LOC105377696 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.161847409G>A, NC_000005.9:g.161274415G>A, NG_011548.1:g.5219G>A, NM_000806.5:c.-250G>A

Select item 14866575709.

rs1486657570 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:161899311 (GRCh38)
5:161326317 (GRCh37)
Canonical SPDI:: NC_000005.10:161899310:C:T
Gene:: GABRA1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.161899311C>T, NC_000005.9:g.161326317C>T, NG_011548.1:g.57121C>T, NM_000806.5:c.*1889C>T, NM_001127644.2:c.*1889C>T, NM_001127644.1:c.*1889C>T, NM_001127643.2:c.*1889C>T, NM_001127643.1:c.*1889C>T, NM_001127648.2:c.*1889C>T, NM_001127648.1:c.*1889C>T, NM_001127645.2:c.*1889C>T, NM_001127645.1:c.*1889C>T, NM_001127647.1:c.*1889C>T, NM_001127646.1:c.*1889C>T

Select item 148557969610.

rs1485579696 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:161897936 (GRCh38)
5:161324942 (GRCh37)
Canonical SPDI:: NC_000005.10:161897935:G:A
Gene:: GABRA1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.161897936G>A, NC_000005.9:g.161324942G>A, NG_011548.1:g.55746G>A, NM_000806.5:c.*514G>A, NM_001127644.2:c.*514G>A, NM_001127644.1:c.*514G>A, NM_001127643.2:c.*514G>A, NM_001127643.1:c.*514G>A, NM_001127648.2:c.*514G>A, NM_001127648.1:c.*514G>A, NM_001127645.2:c.*514G>A, NM_001127645.1:c.*514G>A, NM_001127647.1:c.*514G>A, NM_001127646.1:c.*514G>A

Select item 148487049711.

rs1484870497 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:161850829 (GRCh38)
5:161277835 (GRCh37)
Canonical SPDI:: NC_000005.10:161850828:C:G
Gene:: GABRA1 (Varview), LOC105377696 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.161850829C>G, NC_000005.9:g.161277835C>G, NG_011548.1:g.8639C>G, NM_000806.5:c.19C>G, NM_001127644.2:c.19C>G, NM_001127644.1:c.19C>G, NM_001127643.2:c.19C>G, NM_001127643.1:c.19C>G, NM_001127648.2:c.19C>G, NM_001127648.1:c.19C>G, NM_001127645.2:c.19C>G, NM_001127645.1:c.19C>G, NM_001127647.1:c.19C>G, NM_001127646.1:c.19C>G, NP_000797.2:p.Leu7Val, NP_001121116.1:p.Leu7Val, NP_001121115.1:p.Leu7Val, NP_001121120.1:p.Leu7Val, NP_001121117.1:p.Leu7Val

Select item 148425630512.

rs1484256305 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:161898238 (GRCh38)
5:161325244 (GRCh37)
Canonical SPDI:: NC_000005.10:161898237:C:G
Gene:: GABRA1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000005.10:g.161898238C>G, NC_000005.9:g.161325244C>G, NG_011548.1:g.56048C>G, NM_000806.5:c.*816C>G, NM_001127644.2:c.*816C>G, NM_001127644.1:c.*816C>G, NM_001127643.2:c.*816C>G, NM_001127643.1:c.*816C>G, NM_001127648.2:c.*816C>G, NM_001127648.1:c.*816C>G, NM_001127645.2:c.*816C>G, NM_001127645.1:c.*816C>G, NM_001127647.1:c.*816C>G, NM_001127646.1:c.*816C>G

Select item 148387176113.

rs1483871761 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:161848279 (GRCh38)
5:161275285 (GRCh37)
Canonical SPDI:: NC_000005.10:161848278:T:C
Gene:: GABRA1 (Varview), LOC105377696 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.161848279T>C, NC_000005.9:g.161275285T>C, NG_011548.1:g.6089T>C, NM_000806.5:c.-159T>C, NM_001127644.2:c.-159T>C, NM_001127644.1:c.-159T>C, NM_001127643.2:c.-159T>C, NM_001127643.1:c.-159T>C

Select item 148252614514.

rs1482526145 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 5:161847316 (GRCh38)
5:161274322 (GRCh37)
Canonical SPDI:: NC_000005.10:161847315:A:G,NC_000005.10:161847315:A:T
Gene:: GABRA1 (Varview), LOC105377696 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
T=0.000342/1 (KOREAN)
T=0.000546/1 (Korea1K)
HGVS:: NC_000005.10:g.161847316A>G, NC_000005.10:g.161847316A>T, NC_000005.9:g.161274322A>G, NC_000005.9:g.161274322A>T, NG_011548.1:g.5126A>G, NG_011548.1:g.5126A>T, NM_000806.5:c.-343A>G, NM_000806.5:c.-343A>T