SNP Links for Gene (Select 2562) - SNP

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Select item 14915785841.

rs1491578584 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 15:26674400 (GRCh38)
15:26919547 (GRCh37)
Canonical SPDI:: NC_000015.10:26674399:CA:
Gene:: GABRB3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00056/9 (TOMMO)
HGVS:: NC_000015.10:g.26674400_26674401del, NC_000015.9:g.26919547_26919548del, NG_012836.1:g.104380_104381del

Select item 14915691112.

rs1491569111 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,AAAA [Show Flanks]
Chromosome:: 15:26554174 (GRCh38)
15:26799321 (GRCh37)
Canonical SPDI:: NC_000015.10:26554172:AAA:A,NC_000015.10:26554172:AAA:AAAAA
Gene:: GABRB3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAA=0./0 (ALFA)
HGVS:: NC_000015.10:g.26554174_26554175del, NC_000015.10:g.26554174_26554175dup, NC_000015.9:g.26799321_26799322del, NC_000015.9:g.26799321_26799322dup, NG_012836.1:g.224607_224608del, NG_012836.1:g.224607_224608dup

Select item 14915634193.

rs1491563419 has merged into rs55723767 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAGGAAGGGAAAGAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAGGGAAGGGAAGGAAAGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 15:26674407 (GRCh38)
15:26919554 (GRCh37)
Canonical SPDI:: NC_000015.10:26674400:AAAAAAAAAAAAAAAAAAAAA:AAAAAA,NC_000015.10:26674400:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000015.10:26674400:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000015.10:26674400:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000015.10:26674400:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000015.10:26674400:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000015.10:26674400:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000015.10:26674400:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:26674400:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:26674400:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000015.10:26674400:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000015.10:26674400:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000015.10:26674400:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000015.10:26674400:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000015.10:26674400:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:26674400:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:26674400:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:26674400:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:26674400:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:26674400:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:26674400:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:26674400:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:26674400:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:26674400:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:26674400:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:26674400:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:26674400:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:26674400:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:26674400:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:26674400:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:26674400:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:26674400:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:26674400:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:26674400:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:26674400:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAGGAAGGGAAAGAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:26674400:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGGAAGGGAAGGAAAGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: GABRB3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAA=0./0 (ALFA)
-=0.2/8 (GENOME_DK)
HGVS:: NC_000015.10:g.26674407_26674421del, NC_000015.10:g.26674409_26674421del, NC_000015.10:g.26674410_26674421del, NC_000015.10:g.26674411_26674421del, NC_000015.10:g.26674412_26674421del, NC_000015.10:g.26674413_26674421del, NC_000015.10:g.26674414_26674421del, NC_000015.10:g.26674415_26674421del, NC_000015.10:g.26674416_26674421del, NC_000015.10:g.26674417_26674421del, NC_000015.10:g.26674418_26674421del, NC_000015.10:g.26674419_26674421del, NC_000015.10:g.26674420_26674421del, NC_000015.10:g.26674421del, NC_000015.10:g.26674421dup, NC_000015.10:g.26674420_26674421dup, NC_000015.10:g.26674419_26674421dup, NC_000015.10:g.26674418_26674421dup, NC_000015.10:g.26674417_26674421dup, NC_000015.10:g.26674416_26674421dup, NC_000015.10:g.26674415_26674421dup, NC_000015.10:g.26674414_26674421dup, NC_000015.10:g.26674413_26674421dup, NC_000015.10:g.26674412_26674421dup, NC_000015.10:g.26674411_26674421dup, NC_000015.10:g.26674410_26674421dup, NC_000015.10:g.26674409_26674421dup, NC_000015.10:g.26674408_26674421dup, NC_000015.10:g.26674407_26674421dup, NC_000015.10:g.26674406_26674421dup, NC_000015.10:g.26674405_26674421dup, NC_000015.10:g.26674404_26674421dup, NC_000015.10:g.26674403_26674421dup, NC_000015.10:g.26674421_26674422insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.10:g.26674401_26674421A[35]GGAAAGGAAGGGAAAGAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000015.10:g.26674401_26674421A[34]GGGAA[2]GGAAA[2]A[26], NC_000015.9:g.26919554_26919568del, NC_000015.9:g.26919556_26919568del, NC_000015.9:g.26919557_26919568del, NC_000015.9:g.26919558_26919568del, NC_000015.9:g.26919559_26919568del, NC_000015.9:g.26919560_26919568del, NC_000015.9:g.26919561_26919568del, NC_000015.9:g.26919562_26919568del, NC_000015.9:g.26919563_26919568del, NC_000015.9:g.26919564_26919568del, NC_000015.9:g.26919565_26919568del, NC_000015.9:g.26919566_26919568del, NC_000015.9:g.26919567_26919568del, NC_000015.9:g.26919568del, NC_000015.9:g.26919568dup, NC_000015.9:g.26919567_26919568dup, NC_000015.9:g.26919566_26919568dup, NC_000015.9:g.26919565_26919568dup, NC_000015.9:g.26919564_26919568dup, NC_000015.9:g.26919563_26919568dup, NC_000015.9:g.26919562_26919568dup, NC_000015.9:g.26919561_26919568dup, NC_000015.9:g.26919560_26919568dup, NC_000015.9:g.26919559_26919568dup, NC_000015.9:g.26919558_26919568dup, NC_000015.9:g.26919557_26919568dup, NC_000015.9:g.26919556_26919568dup, NC_000015.9:g.26919555_26919568dup, NC_000015.9:g.26919554_26919568dup, NC_000015.9:g.26919553_26919568dup, NC_000015.9:g.26919552_26919568dup, NC_000015.9:g.26919551_26919568dup, NC_000015.9:g.26919550_26919568dup, NC_000015.9:g.26919568_26919569insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.9:g.26919548_26919568A[35]GGAAAGGAAGGGAAAGAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000015.9:g.26919548_26919568A[34]GGGAA[2]GGAAA[2]A[26], NG_012836.1:g.104366_104380del, NG_012836.1:g.104368_104380del, NG_012836.1:g.104369_104380del, NG_012836.1:g.104370_104380del, NG_012836.1:g.104371_104380del, NG_012836.1:g.104372_104380del, NG_012836.1:g.104373_104380del, NG_012836.1:g.104374_104380del, NG_012836.1:g.104375_104380del, NG_012836.1:g.104376_104380del, NG_012836.1:g.104377_104380del, NG_012836.1:g.104378_104380del, NG_012836.1:g.104379_104380del, NG_012836.1:g.104380del, NG_012836.1:g.104380dup, NG_012836.1:g.104379_104380dup, NG_012836.1:g.104378_104380dup, NG_012836.1:g.104377_104380dup, NG_012836.1:g.104376_104380dup, NG_012836.1:g.104375_104380dup, NG_012836.1:g.104374_104380dup, NG_012836.1:g.104373_104380dup, NG_012836.1:g.104372_104380dup, NG_012836.1:g.104371_104380dup, NG_012836.1:g.104370_104380dup, NG_012836.1:g.104369_104380dup, NG_012836.1:g.104368_104380dup, NG_012836.1:g.104367_104380dup, NG_012836.1:g.104366_104380dup, NG_012836.1:g.104365_104380dup, NG_012836.1:g.104364_104380dup, NG_012836.1:g.104363_104380dup, NG_012836.1:g.104362_104380dup, NG_012836.1:g.104380_104381insTTTTTTTTTTTTTTTTTTTTTTTT, NG_012836.1:g.104360_104380T[24]CTTTCCCTTCCTTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_012836.1:g.104360_104380T[29]CCTTTCCTTCCCTTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1]

Select item 14915629054.

rs1491562905 [Homo sapiens]

Variant type:: DEL
Alleles:: GG>- [Show Flanks]
Chromosome:: 15:26732300 (GRCh38)
15:26977447 (GRCh37)
Canonical SPDI:: NC_000015.10:26732299:GG:
Gene:: GABRB3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: -=0.00002/1 (GnomAD)
HGVS:: NC_000015.10:g.26732300_26732301del, NC_000015.9:g.26977447_26977448del, NG_012836.1:g.46480_46481del

Select item 14914726805.

rs1491472680 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,AGA,ATATATATATAC [Show Flanks]
Chromosome:: 15:26554040 (GRCh38)
15:26799188 (GRCh37)
Canonical SPDI:: NC_000015.10:26554040::A,NC_000015.10:26554040::AGA,NC_000015.10:26554040::ATATATATATAC
Gene:: GABRB3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATAC=0./0 (ALFA)
A=0.00022/3 (TOMMO)
HGVS:: NC_000015.10:g.26554040_26554041insA, NC_000015.10:g.26554040_26554041insAGA, NC_000015.10:g.26554040_26554041insATATATATATAC, NC_000015.9:g.26799187_26799188insA, NC_000015.9:g.26799187_26799188insAGA, NC_000015.9:g.26799187_26799188insATATATATATAC, NG_012836.1:g.224740_224741insT, NG_012836.1:g.224740_224741insTCT, NG_012836.1:g.224740_224741insGTATATATATAT

Select item 14914511286.

rs1491451128 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 15:26612961 (GRCh38)
15:26858109 (GRCh37)
Canonical SPDI:: NC_000015.10:26612961::C
Gene:: GABRB3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000043/6 (GnomAD)
C=0.000212/4 (TOMMO)
C=0.001092/2 (Korea1K)
HGVS:: NC_000015.10:g.26612961_26612962insC, NC_000015.9:g.26858108_26858109insC, NG_012836.1:g.165819_165820insG

Select item 14913998787.

rs1491399878 has merged into rs1314530717 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCCCCACCCCCA>-,CCCCCACCCCCACCCCCA [Show Flanks]
Chromosome:: 15:26773821 (GRCh38)
15:27018968 (GRCh37)
Canonical SPDI:: NC_000015.10:26773813:ACCCCCACCCCCACCCCCA:ACCCCCA,NC_000015.10:26773813:ACCCCCACCCCCACCCCCA:ACCCCCACCCCCACCCCCACCCCCA
Gene:: GABRB3 (Varview), LOC112268151 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACCCCCACCCCCACCCCCACCCCCA=0./0 (ALFA)
ACCCCC=0.00004/1 (TOMMO)
HGVS:: NC_000015.10:g.26773815CCCCCA[1], NC_000015.10:g.26773815CCCCCA[4], NC_000015.9:g.27018962CCCCCA[1], NC_000015.9:g.27018962CCCCCA[4], NG_012836.1:g.4950GGGGGT[1], NG_012836.1:g.4950GGGGGT[4]

Select item 14913978538.

rs1491397853 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GCACAC [Show Flanks]
Chromosome:: 15:26586398 (GRCh38)
15:26831546 (GRCh37)
Canonical SPDI:: NC_000015.10:26586398:CACAC:CACACGCACAC
Gene:: GABRB3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: CACACGCACAC=0./0 (ALFA)
CACACG=0.00376/2 (GnomAD)
HGVS:: NC_000015.10:g.26586399_26586403CA[2]CGCACAC[1], NC_000015.9:g.26831546_26831550CA[2]CGCACAC[1], NG_012836.1:g.192378_192382GT[2]GCGTGTG[1]

Select item 14913923219.

rs1491392321 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CCT [Show Flanks]
Chromosome:: 15:26709468 (GRCh38)
15:26954616 (GRCh37)
Canonical SPDI:: NC_000015.10:26709468:CCT:CCTCCT
Gene:: GABRB3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CCTCCT=0./0 (ALFA)
CCT=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.26709469_26709471dup, NC_000015.9:g.26954616_26954618dup, NG_012836.1:g.69310_69312dup

Select item 149138562910.

rs1491385629 has merged into rs66961147 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 15:26730427 (GRCh38)
15:26975574 (GRCh37)
Canonical SPDI:: NC_000015.10:26730417:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000015.10:26730417:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000015.10:26730417:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000015.10:26730417:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000015.10:26730417:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:26730417:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:26730417:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000015.10:26730417:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000015.10:26730417:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000015.10:26730417:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000015.10:26730417:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000015.10:26730417:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000015.10:26730417:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:26730417:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:26730417:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: GABRB3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
AA=0.4382/1625 (TWINSUK)
AA=0.4494/1732 (ALSPAC)
HGVS:: NC_000015.10:g.26730427_26730439del, NC_000015.10:g.26730428_26730439del, NC_000015.10:g.26730429_26730439del, NC_000015.10:g.26730430_26730439del, NC_000015.10:g.26730432_26730439del, NC_000015.10:g.26730433_26730439del, NC_000015.10:g.26730434_26730439del, NC_000015.10:g.26730435_26730439del, NC_000015.10:g.26730436_26730439del, NC_000015.10:g.26730437_26730439del, NC_000015.10:g.26730438_26730439del, NC_000015.10:g.26730439del, NC_000015.10:g.26730439dup, NC_000015.10:g.26730438_26730439dup, NC_000015.10:g.26730437_26730439dup, NC_000015.9:g.26975574_26975586del, NC_000015.9:g.26975575_26975586del, NC_000015.9:g.26975576_26975586del, NC_000015.9:g.26975577_26975586del, NC_000015.9:g.26975579_26975586del, NC_000015.9:g.26975580_26975586del, NC_000015.9:g.26975581_26975586del, NC_000015.9:g.26975582_26975586del, NC_000015.9:g.26975583_26975586del, NC_000015.9:g.26975584_26975586del, NC_000015.9:g.26975585_26975586del, NC_000015.9:g.26975586del, NC_000015.9:g.26975586dup, NC_000015.9:g.26975585_26975586dup, NC_000015.9:g.26975584_26975586dup, NG_012836.1:g.48351_48363del, NG_012836.1:g.48352_48363del, NG_012836.1:g.48353_48363del, NG_012836.1:g.48354_48363del, NG_012836.1:g.48356_48363del, NG_012836.1:g.48357_48363del, NG_012836.1:g.48358_48363del, NG_012836.1:g.48359_48363del, NG_012836.1:g.48360_48363del, NG_012836.1:g.48361_48363del, NG_012836.1:g.48362_48363del, NG_012836.1:g.48363del, NG_012836.1:g.48363dup, NG_012836.1:g.48362_48363dup, NG_012836.1:g.48361_48363dup

Select item 149138498511.

rs1491384985 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATA>-,TA,TATATA,TATATATA,TATATATATATATATATATATA [Show Flanks]
Chromosome:: 15:26554206 (GRCh38)
15:26799353 (GRCh37)
Canonical SPDI:: NC_000015.10:26554191:TATATATATATATATATA:TATATATATATATA,NC_000015.10:26554191:TATATATATATATATATA:TATATATATATATATA,NC_000015.10:26554191:TATATATATATATATATA:TATATATATATATATATATA,NC_000015.10:26554191:TATATATATATATATATA:TATATATATATATATATATATA,NC_000015.10:26554191:TATATATATATATATATA:TATATATATATATATATATATATATATATATATATA
Gene:: GABRB3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATATATATATA=0./0 (ALFA)
TA=0.00843/95 (TOMMO)
TA=0.01441/13 (Korea1K)
HGVS:: NC_000015.10:g.26554192TA[7], NC_000015.10:g.26554192TA[8], NC_000015.10:g.26554192TA[10], NC_000015.10:g.26554192TA[11], NC_000015.10:g.26554192TA[18], NC_000015.9:g.26799339TA[7], NC_000015.9:g.26799339TA[8], NC_000015.9:g.26799339TA[10], NC_000015.9:g.26799339TA[11], NC_000015.9:g.26799339TA[18], NG_012836.1:g.224572TA[7], NG_012836.1:g.224572TA[8], NG_012836.1:g.224572TA[10], NG_012836.1:g.224572TA[11], NG_012836.1:g.224572TA[18]

Select item 149137653612.

rs1491376536 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 15:26730417 (GRCh38)
15:26975564 (GRCh37)
Canonical SPDI:: NC_000015.10:26730416:CA:
Gene:: GABRB3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00025/3 (ALFA)
HGVS:: NC_000015.10:g.26730417_26730418del, NC_000015.9:g.26975564_26975565del, NG_012836.1:g.48363_48364del

Select item 149137581513.

rs1491375815 has merged into rs71420015 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA [Show Flanks]
Chromosome:: 15:26639351 (GRCh38)
15:26884498 (GRCh37)
Canonical SPDI:: NC_000015.10:26639341:AAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000015.10:26639341:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:26639341:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:26639341:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000015.10:26639341:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000015.10:26639341:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
Gene:: GABRB3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
A=0.286142/1433 (1000Genomes)
A=0.375/3 (KOREAN)
A=0.45/18 (GENOME_DK)
HGVS:: NC_000015.10:g.26639351_26639357del, NC_000015.10:g.26639356_26639357del, NC_000015.10:g.26639357del, NC_000015.10:g.26639357dup, NC_000015.10:g.26639356_26639357dup, NC_000015.10:g.26639355_26639357dup, NC_000015.9:g.26884498_26884504del, NC_000015.9:g.26884503_26884504del, NC_000015.9:g.26884504del, NC_000015.9:g.26884504dup, NC_000015.9:g.26884503_26884504dup, NC_000015.9:g.26884502_26884504dup, NG_012836.1:g.139433_139439del, NG_012836.1:g.139438_139439del, NG_012836.1:g.139439del, NG_012836.1:g.139439dup, NG_012836.1:g.139438_139439dup, NG_012836.1:g.139437_139439dup

Select item 149136687914.

rs1491366879 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CAAA,GAAA [Show Flanks]
Chromosome:: 15:26765130 (GRCh38)
15:27010278 (GRCh37)
Canonical SPDI:: NC_000015.10:26765130:AAA:AAACAAA,NC_000015.10:26765130:AAA:AAAGAAA
Gene:: GABRB3 (Varview), LOC112268151 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAACAAA=0./0 (ALFA)
AAAC=0.000004/1 (TOPMED)
AAAC=0.000363/1 (GnomAD)
HGVS:: NC_000015.10:g.26765133_26765134insCAAA, NC_000015.10:g.26765133_26765134insGAAA, NC_000015.9:g.27010280_27010281insCAAA, NC_000015.9:g.27010280_27010281insGAAA, NG_012836.1:g.13650_13651insGTTT, NG_012836.1:g.13650_13651insCTTT

Select item 149134156715.

rs1491341567 has merged into rs1555368942 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGA>-,GA,GAGAGA,GAGAGAGA [Show Flanks]
Chromosome:: 15:26586714 (GRCh38)
15:26831861 (GRCh37)
Canonical SPDI:: NC_000015.10:26586704:AGAGAGAGAGAGA:AGAGAGAGA,NC_000015.10:26586704:AGAGAGAGAGAGA:AGAGAGAGAGA,NC_000015.10:26586704:AGAGAGAGAGAGA:AGAGAGAGAGAGAGA,NC_000015.10:26586704:AGAGAGAGAGAGA:AGAGAGAGAGAGAGAGA
Gene:: GABRB3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGAGAGAGA=0./0 (ALFA)
AG=0.22893/3834 (TOMMO)
AG=0.40134/240 (NorthernSweden)
HGVS:: NC_000015.10:g.26586706GA[4], NC_000015.10:g.26586706GA[5], NC_000015.10:g.26586706GA[7], NC_000015.10:g.26586706GA[8], NC_000015.9:g.26831853GA[4], NC_000015.9:g.26831853GA[5], NC_000015.9:g.26831853GA[7], NC_000015.9:g.26831853GA[8], NG_012836.1:g.192065CT[4], NG_012836.1:g.192065CT[5], NG_012836.1:g.192065CT[7], NG_012836.1:g.192065CT[8]

Select item 149133267716.

rs1491332677 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 15:26664704 (GRCh38)
15:26909851 (GRCh37)
Canonical SPDI:: NC_000015.10:26664702:TGT:T
Gene:: GABRB3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000015.10:g.26664704_26664705del, NC_000015.9:g.26909851_26909852del, NG_012836.1:g.114077_114078del

Select item 149130416617.

rs1491304166 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 15:26756404 (GRCh38)
15:27001551 (GRCh37)
Canonical SPDI:: NC_000015.10:26756403:CT:
Gene:: GABRB3 (Varview), LOC112268151 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000015.10:g.26756404_26756405del, NC_000015.9:g.27001551_27001552del, NG_012836.1:g.22376_22377del

Select item 149129743718.

rs1491297437 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 15:26737617 (GRCh38)
15:26982764 (GRCh37)
Canonical SPDI:: NC_000015.10:26737616:AT:
Gene:: GABRB3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000015.10:g.26737617_26737618del, NC_000015.9:g.26982764_26982765del, NG_012836.1:g.41163_41164del

Select item 149129367019.

rs1491293670 has merged into rs1375061912 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,TTT,TTTTT,TTTTTT [Show Flanks]
Chromosome:: 15:26554037 (GRCh38)
15:26799184 (GRCh37)
Canonical SPDI:: NC_000015.10:26554035:TTT:T,NC_000015.10:26554035:TTT:TTTT,NC_000015.10:26554035:TTT:TTTTTT,NC_000015.10:26554035:TTT:TTTTTTT
Gene:: GABRB3 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTT=0./0 (ALFA)
-=0.01579/1151 (GnomAD)
HGVS:: NC_000015.10:g.26554037_26554038del, NC_000015.10:g.26554038dup, NC_000015.10:g.26554036_26554038dup, NC_000015.10:g.26554038_26554039insTTTT, NC_000015.9:g.26799184_26799185del, NC_000015.9:g.26799185dup, NC_000015.9:g.26799183_26799185dup, NC_000015.9:g.26799185_26799186insTTTT, NG_012836.1:g.224744_224745del, NG_012836.1:g.224745dup, NG_012836.1:g.224743_224745dup, NG_012836.1:g.224745_224746insAAAA

Select item 149129330420.

rs1491293304 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 15:26554191 (GRCh38)
15:26799338 (GRCh37)
Canonical SPDI:: NC_000015.10:26554190:CT:
Gene:: GABRB3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00017/2 (ALFA)
-=0.00189/57 (GnomAD)
-=0.00853/92 (TOMMO)
-=0.03452/31 (Korea1K)
HGVS:: NC_000015.10:g.26554191_26554192del, NC_000015.9:g.26799338_26799339del, NG_012836.1:g.224589_224590del

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