SNP Links for Gene (Select 1134) - SNP

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Select item 14915460151.

rs1491546015 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 2:174763829 (GRCh38)
2:175628557 (GRCh37)
Canonical SPDI:: NC_000002.12:174763827:TGT:T
Gene:: CHRNA1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: -=0.0184/71 (ALSPAC)
-=0.0189/70 (TWINSUK)
HGVS:: NC_000002.12:g.174763829_174763830del, NC_000002.11:g.175628557_175628558del, NG_008172.1:g.5644_5645del

Select item 14914789532.

rs1491478953 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:174750180 (GRCh38)
2:175614908 (GRCh37)
Canonical SPDI:: NC_000002.12:174750179:CA:
Gene:: CHRNA1 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00039/10 (GnomAD)
HGVS:: NC_000002.12:g.174750180_174750181del, NC_000002.11:g.175614908_175614909del, NG_008172.1:g.19292_19293del

Select item 14913729683.

rs1491372968 has merged into rs11357910 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA [Show Flanks]
Chromosome:: 2:174756045 (GRCh38)
2:175620773 (GRCh37)
Canonical SPDI:: NC_000002.12:174756036:AAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000002.12:174756036:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:174756036:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:174756036:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:174756036:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:174756036:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:174756036:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:174756036:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
Gene:: CHRNA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
AA=0.1274/638 (1000Genomes)
HGVS:: NC_000002.12:g.174756045_174756053del, NC_000002.12:g.174756048_174756053del, NC_000002.12:g.174756049_174756053del, NC_000002.12:g.174756050_174756053del, NC_000002.12:g.174756051_174756053del, NC_000002.12:g.174756052_174756053del, NC_000002.12:g.174756053del, NC_000002.12:g.174756053dup, NC_000002.11:g.175620773_175620781del, NC_000002.11:g.175620776_175620781del, NC_000002.11:g.175620777_175620781del, NC_000002.11:g.175620778_175620781del, NC_000002.11:g.175620779_175620781del, NC_000002.11:g.175620780_175620781del, NC_000002.11:g.175620781del, NC_000002.11:g.175620781dup, NG_008172.1:g.13428_13436del, NG_008172.1:g.13431_13436del, NG_008172.1:g.13432_13436del, NG_008172.1:g.13433_13436del, NG_008172.1:g.13434_13436del, NG_008172.1:g.13435_13436del, NG_008172.1:g.13436del, NG_008172.1:g.13436dup

Select item 14912974464.

rs1491297446 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 2:174759929 (GRCh38)
2:175624657 (GRCh37)
Canonical SPDI:: NC_000002.12:174759928:TA:
Gene:: CHRNA1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000002.12:g.174759929_174759930del, NC_000002.11:g.175624657_175624658del, NG_008172.1:g.9543_9544del

Select item 14912709275.

rs1491270927 has merged into rs34233623 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:174754893 (GRCh38)
2:175619621 (GRCh37)
Canonical SPDI:: NC_000002.12:174754882:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:174754882:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:174754882:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:174754882:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:174754882:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:174754882:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:174754882:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:174754882:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:174754882:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:174754882:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:174754882:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:174754882:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:174754882:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:174754882:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:174754882:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:174754882:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:174754882:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:174754882:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:174754882:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CHRNA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.000008/2 (TOPMED)
T=0.475/19 (GENOME_DK)
HGVS:: NC_000002.12:g.174754893_174754903del, NC_000002.12:g.174754894_174754903del, NC_000002.12:g.174754895_174754903del, NC_000002.12:g.174754896_174754903del, NC_000002.12:g.174754897_174754903del, NC_000002.12:g.174754898_174754903del, NC_000002.12:g.174754899_174754903del, NC_000002.12:g.174754900_174754903del, NC_000002.12:g.174754901_174754903del, NC_000002.12:g.174754902_174754903del, NC_000002.12:g.174754903del, NC_000002.12:g.174754903dup, NC_000002.12:g.174754902_174754903dup, NC_000002.12:g.174754901_174754903dup, NC_000002.12:g.174754900_174754903dup, NC_000002.12:g.174754899_174754903dup, NC_000002.12:g.174754898_174754903dup, NC_000002.12:g.174754897_174754903dup, NC_000002.12:g.174754893_174754903dup, NC_000002.11:g.175619621_175619631del, NC_000002.11:g.175619622_175619631del, NC_000002.11:g.175619623_175619631del, NC_000002.11:g.175619624_175619631del, NC_000002.11:g.175619625_175619631del, NC_000002.11:g.175619626_175619631del, NC_000002.11:g.175619627_175619631del, NC_000002.11:g.175619628_175619631del, NC_000002.11:g.175619629_175619631del, NC_000002.11:g.175619630_175619631del, NC_000002.11:g.175619631del, NC_000002.11:g.175619631dup, NC_000002.11:g.175619630_175619631dup, NC_000002.11:g.175619629_175619631dup, NC_000002.11:g.175619628_175619631dup, NC_000002.11:g.175619627_175619631dup, NC_000002.11:g.175619626_175619631dup, NC_000002.11:g.175619625_175619631dup, NC_000002.11:g.175619621_175619631dup, NG_008172.1:g.14580_14590del, NG_008172.1:g.14581_14590del, NG_008172.1:g.14582_14590del, NG_008172.1:g.14583_14590del, NG_008172.1:g.14584_14590del, NG_008172.1:g.14585_14590del, NG_008172.1:g.14586_14590del, NG_008172.1:g.14587_14590del, NG_008172.1:g.14588_14590del, NG_008172.1:g.14589_14590del, NG_008172.1:g.14590del, NG_008172.1:g.14590dup, NG_008172.1:g.14589_14590dup, NG_008172.1:g.14588_14590dup, NG_008172.1:g.14587_14590dup, NG_008172.1:g.14586_14590dup, NG_008172.1:g.14585_14590dup, NG_008172.1:g.14584_14590dup, NG_008172.1:g.14580_14590dup

Select item 14912611716.

rs1491261171 [Homo sapiens]

Variant type:: DEL
Alleles:: CG>- [Show Flanks]
Chromosome:: 2:174759959 (GRCh38)
2:175624687 (GRCh37)
Canonical SPDI:: NC_000002.12:174759958:CG:
Gene:: CHRNA1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.174759959_174759960del, NC_000002.11:g.175624687_175624688del, NG_008172.1:g.9513_9514del

Select item 14911971147.

rs1491197114 has merged into rs113379404 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTT [Show Flanks]
Chromosome:: 2:174752766 (GRCh38)
2:175617494 (GRCh37)
Canonical SPDI:: NC_000002.12:174752754:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:174752754:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:174752754:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:174752754:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:174752754:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT
Gene:: CHRNA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0.0011/5 (ALFA)
-=0./0 (KOREAN)
T=0.371/1858 (1000Genomes)
HGVS:: NC_000002.12:g.174752766_174752767del, NC_000002.12:g.174752767del, NC_000002.12:g.174752767dup, NC_000002.12:g.174752766_174752767dup, NC_000002.12:g.174752765_174752767dup, NC_000002.11:g.175617494_175617495del, NC_000002.11:g.175617495del, NC_000002.11:g.175617495dup, NC_000002.11:g.175617494_175617495dup, NC_000002.11:g.175617493_175617495dup, NG_008172.1:g.16717_16718del, NG_008172.1:g.16718del, NG_008172.1:g.16718dup, NG_008172.1:g.16717_16718dup, NG_008172.1:g.16716_16718dup

Select item 14907445138.

rs1490744513 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:174754737 (GRCh38)
2:175619465 (GRCh37)
Canonical SPDI:: NC_000002.12:174754736:G:T
Gene:: CHRNA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000002.12:g.174754737G>T, NC_000002.11:g.175619465G>T, NG_008172.1:g.14736C>A

Select item 14906204159.

rs1490620415 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:174748718 (GRCh38)
2:175613446 (GRCh37)
Canonical SPDI:: NC_000002.12:174748717:G:A
Gene:: CHRNA1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.174748718G>A, NC_000002.11:g.175613446G>A, NG_008172.1:g.20755C>T, NM_000079.4:c.1104C>T, NM_000079.3:c.1104C>T, NM_001039523.3:c.1179C>T, NM_001039523.2:c.1179C>T, XM_017003256.2:c.1200C>T, XM_017003256.1:c.1200C>T, XM_017003257.2:c.1125C>T, XM_017003257.1:c.1125C>T

Select item 149051541110.

rs1490515411 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:174750444 (GRCh38)
2:175615172 (GRCh37)
Canonical SPDI:: NC_000002.12:174750443:G:T
Gene:: CHRNA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.174750444G>T, NC_000002.11:g.175615172G>T, NG_008172.1:g.19029C>A

Select item 149003176611.

rs1490031766 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:174751830 (GRCh38)
2:175616558 (GRCh37)
Canonical SPDI:: NC_000002.12:174751829:C:T
Gene:: CHRNA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.174751830C>T, NC_000002.11:g.175616558C>T, NG_008172.1:g.17643G>A

Select item 148991893812.

rs1489918938 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:174765549 (GRCh38)
2:175630277 (GRCh37)
Canonical SPDI:: NC_000002.12:174765548:G:C
Gene:: CHRNA1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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_000002.12:g.174765549G>C, NC_000002.11:g.175630277G>C, NG_008172.1:g.3924C>G

Select item 148962255413.

rs1489622554 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:174757502 (GRCh38)
2:175622230 (GRCh37)
Canonical SPDI:: NC_000002.12:174757501:C:T
Gene:: CHRNA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.174757502C>T, NC_000002.11:g.175622230C>T, NG_008172.1:g.11971G>A

Select item 148941310414.

rs1489413104 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:174753313 (GRCh38)
2:175618041 (GRCh37)
Canonical SPDI:: NC_000002.12:174753312:C:A,NC_000002.12:174753312:C:T
Gene:: CHRNA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.174753313C>A, NC_000002.12:g.174753313C>T, NC_000002.11:g.175618041C>A, NC_000002.11:g.175618041C>T, NG_008172.1:g.16160G>T, NG_008172.1:g.16160G>A

Select item 148939307815.

rs1489393078 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:174757620 (GRCh38)
2:175622348 (GRCh37)
Canonical SPDI:: NC_000002.12:174757619:T:C
Gene:: CHRNA1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.174757620T>C, NC_000002.11:g.175622348T>C, NG_008172.1:g.11853A>G, NM_000079.4:c.290A>G, NM_000079.3:c.290A>G, NM_001039523.3:c.365A>G, NM_001039523.2:c.365A>G, XM_017003256.2:c.386A>G, XM_017003256.1:c.386A>G, XM_017003257.2:c.311A>G, XM_017003257.1:c.311A>G, NP_000070.1:p.Lys97Arg, NP_001034612.1:p.Lys122Arg, XP_016858745.1:p.Lys129Arg, XP_016858746.1:p.Lys104Arg

Select item 148916555916.

rs1489165559 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:174761452 (GRCh38)
2:175626180 (GRCh37)
Canonical SPDI:: NC_000002.12:174761451:A:G
Gene:: CHRNA1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_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_000002.12:g.174761452A>G, NC_000002.11:g.175626180A>G, NG_008172.1:g.8021T>C

Select item 148915614017.

rs1489156140 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 2:174756579 (GRCh38)
2:175621307 (GRCh37)
Canonical SPDI:: NC_000002.12:174756578:AA:
Gene:: CHRNA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.174756579_174756580del, NC_000002.11:g.175621307_175621308del, NG_008172.1:g.12893_12894del

Select item 148837819018.

rs1488378190 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TAA [Show Flanks]
Chromosome:: 2:174754821 (GRCh38)
2:175619550 (GRCh37)
Canonical SPDI:: NC_000002.12:174754821:ATAA:ATAATAA
Gene:: CHRNA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATAATAA=0./0 (ALFA)
ATA=0.000004/1 (TOPMED)
ATA=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.174754823_174754825dup, NC_000002.11:g.175619551_175619553dup, NG_008172.1:g.14649_14651dup

Select item 148835787919.

rs1488357879 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:174759242 (GRCh38)
2:175623970 (GRCh37)
Canonical SPDI:: NC_000002.12:174759241:C:T
Gene:: CHRNA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.174759242C>T, NC_000002.11:g.175623970C>T, NG_008172.1:g.10231G>A

Select item 148814276920.

rs1488142769 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:174756448 (GRCh38)
2:175621176 (GRCh37)
Canonical SPDI:: NC_000002.12:174756447:C:G
Gene:: CHRNA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.00003/8 (TOPMED)
HGVS:: NC_000002.12:g.174756448C>G, NC_000002.11:g.175621176C>G, NG_008172.1:g.13025G>C

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