SNP Links for Gene (Select 200959) - SNP

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Select item 14914686101.

rs1491468610 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,C [Show Flanks]
Chromosome:: 3:98020872 (GRCh38)
3:97739717 (GRCh37)
Canonical SPDI:: NC_000003.12:98020872::A,NC_000003.12:98020872::C
Gene:: GABRR3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000003.12:g.98020872_98020873insA, NC_000003.12:g.98020872_98020873insC, NC_000003.11:g.97739716_97739717insA, NC_000003.11:g.97739716_97739717insC

Select item 14911420372.

rs1491142037 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 3:98020871 (GRCh38)
3:97739716 (GRCh37)
Canonical SPDI:: NC_000003.12:98020871::A
Gene:: GABRR3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.00008/1 (ALFA)
A=0.00082/10 (GnomAD)
HGVS:: NC_000003.12:g.98020871_98020872insA, NC_000003.11:g.97739715_97739716insA

Select item 14911064293.

rs1491106429 has merged into rs10710938 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 3:98018017 (GRCh38)
3:97736861 (GRCh37)
Canonical SPDI:: NC_000003.12:98018004:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:98018004:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:98018004:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:98018004:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:98018004:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:98018004:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:98018004:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:98018004:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:98018004:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:98018004:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:98018004:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: GABRR3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
-=0.475/19 (GENOME_DK)
HGVS:: NC_000003.12:g.98018017_98018020del, NC_000003.12:g.98018018_98018020del, NC_000003.12:g.98018019_98018020del, NC_000003.12:g.98018020del, NC_000003.12:g.98018020dup, NC_000003.12:g.98018019_98018020dup, NC_000003.12:g.98018018_98018020dup, NC_000003.12:g.98018014_98018020dup, NC_000003.12:g.98018010_98018020dup, NC_000003.12:g.98018005_98018020dup, NC_000003.12:g.98018020_98018021insTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.97736861_97736864del, NC_000003.11:g.97736862_97736864del, NC_000003.11:g.97736863_97736864del, NC_000003.11:g.97736864del, NC_000003.11:g.97736864dup, NC_000003.11:g.97736863_97736864dup, NC_000003.11:g.97736862_97736864dup, NC_000003.11:g.97736858_97736864dup, NC_000003.11:g.97736854_97736864dup, NC_000003.11:g.97736849_97736864dup, NC_000003.11:g.97736864_97736865insTTTTTTTTTTTTTTTTTTTTTTT

Select item 14910143934.

rs1491014393 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 3:97996492 (GRCh38)
3:97715336 (GRCh37)
Canonical SPDI:: NC_000003.12:97996488:TCTCT:TCT
Gene:: GABRR3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCT=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000003.12:g.97996490CT[1], NC_000003.11:g.97715334CT[1]

Select item 14909239415.

rs1490923941 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:98018983 (GRCh38)
3:97737827 (GRCh37)
Canonical SPDI:: NC_000003.12:98018982:G:A
Gene:: GABRR3 (Varview)
Functional Consequence:: intron_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_000003.12:g.98018983G>A, NC_000003.11:g.97737827G>A

Select item 14909208326.

rs1490920832 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:98003820 (GRCh38)
3:97722664 (GRCh37)
Canonical SPDI:: NC_000003.12:98003819:C:T
Gene:: GABRR3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.98003820C>T, NC_000003.11:g.97722664C>T

Select item 14909025947.

rs1490902594 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:97989766 (GRCh38)
3:97708610 (GRCh37)
Canonical SPDI:: NC_000003.12:97989765:C:A
Gene:: GABRR3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.97989766C>A, NC_000003.11:g.97708610C>A

Select item 14908861468.

rs1490886146 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:97987825 (GRCh38)
3:97706669 (GRCh37)
Canonical SPDI:: NC_000003.12:97987824:G:A
Gene:: GABRR3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.97987825G>A, NC_000003.11:g.97706669G>A

Select item 14908082079.

rs1490808207 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:98011276 (GRCh38)
3:97730120 (GRCh37)
Canonical SPDI:: NC_000003.12:98011275:T:C
Gene:: GABRR3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.98011276T>C, NC_000003.11:g.97730120T>C

Select item 149079100110.

rs1490791001 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:97996249 (GRCh38)
3:97715093 (GRCh37)
Canonical SPDI:: NC_000003.12:97996248:C:G
Gene:: GABRR3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
G=0.000106/2 (TOMMO)
HGVS:: NC_000003.12:g.97996249C>G, NC_000003.11:g.97715093C>G

Select item 149046136911.

rs1490461369 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 3:98008385 (GRCh38)
3:97727229 (GRCh37)
Canonical SPDI:: NC_000003.12:98008384:T:
Gene:: GABRR3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.98008385del, NC_000003.11:g.97727229del

Select item 149044345612.

rs1490443456 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:98005919 (GRCh38)
3:97724763 (GRCh37)
Canonical SPDI:: NC_000003.12:98005918:T:C
Gene:: GABRR3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000132/2 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000446/2 (Estonian)
HGVS:: NC_000003.12:g.98005919T>C, NC_000003.11:g.97724763T>C

Select item 149039387213.

rs1490393872 has merged into rs35589224 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 3:98003428 (GRCh38)
3:97722272 (GRCh37)
Canonical SPDI:: NC_000003.12:98003416:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:98003416:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:98003416:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:98003416:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:98003416:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:98003416:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:98003416:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:98003416:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:98003416:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:98003416:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: GABRR3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000003.12:g.98003428_98003431del, NC_000003.12:g.98003429_98003431del, NC_000003.12:g.98003430_98003431del, NC_000003.12:g.98003431del, NC_000003.12:g.98003431dup, NC_000003.12:g.98003430_98003431dup, NC_000003.12:g.98003429_98003431dup, NC_000003.12:g.98003427_98003431dup, NC_000003.12:g.98003424_98003431dup, NC_000003.12:g.98003421_98003431dup, NC_000003.11:g.97722272_97722275del, NC_000003.11:g.97722273_97722275del, NC_000003.11:g.97722274_97722275del, NC_000003.11:g.97722275del, NC_000003.11:g.97722275dup, NC_000003.11:g.97722274_97722275dup, NC_000003.11:g.97722273_97722275dup, NC_000003.11:g.97722271_97722275dup, NC_000003.11:g.97722268_97722275dup, NC_000003.11:g.97722265_97722275dup

Select item 149037258914.

rs1490372589 [Homo sapiens]

Variant type:: DELINS
Alleles:: TAG>- [Show Flanks]
Chromosome:: 3:97989147 (GRCh38)
3:97707991 (GRCh37)
Canonical SPDI:: NC_000003.12:97989143:TAGTAG:TAG
Gene:: GABRR3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TAGTAG=0./0 (ALFA)
-=0.000019/5 (TOPMED)
HGVS:: NC_000003.12:g.97989144TAG[1], NC_000003.11:g.97707988TAG[1]

Select item 149034068415.

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 149032815716.

rs1490328157 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTA>- [Show Flanks]
Chromosome:: 3:97987488 (GRCh38)
3:97706332 (GRCh37)
Canonical SPDI:: NC_000003.12:97987485:TAGTA:TA
Gene:: GABRR3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.97987488_97987490del, NC_000003.11:g.97706332_97706334del

Select item 149029715317.

rs1490297153 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:98009401 (GRCh38)
3:97728245 (GRCh37)
Canonical SPDI:: NC_000003.12:98009400:A:G
Gene:: GABRR3 (Varview)
Functional Consequence:: intron_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.98009401A>G, NC_000003.11:g.97728245A>G

Select item 149020396318.

rs1490203963 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 3:98024643 (GRCh38)
3:97743487 (GRCh37)
Canonical SPDI:: NC_000003.12:98024642:A:T
Gene:: GABRR3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.98024643A>T, NC_000003.11:g.97743487A>T

Select item 149012569619.

rs1490125696 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 3:98032393 (GRCh38)
3:97751237 (GRCh37)
Canonical SPDI:: NC_000003.12:98032392:T:A
Gene:: GABRR3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000003.12:g.98032393T>A, NC_000003.11:g.97751237T>A

Select item 149009419120.

rs1490094191 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 3:97990588 (GRCh38)
3:97709432 (GRCh37)
Canonical SPDI:: NC_000003.12:97990587:C:G,NC_000003.12:97990587:C:T
Gene:: GABRR3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000068/18 (TOPMED)
HGVS:: NC_000003.12:g.97990588C>G, NC_000003.12:g.97990588C>T, NC_000003.11:g.97709432C>G, NC_000003.11:g.97709432C>T

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