SNP Links for Gene (Select 100874291) - SNP

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Items: 1 to 20 of 1141

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Select item 14907347421.

rs1490734742 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:73459481 (GRCh38)
2:73686608 (GRCh37)
Canonical SPDI:: NC_000002.12:73459480:A:T
Gene:: ALMS1 (Varview), ALMS1-IT1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_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.73459481A>T, NC_000002.11:g.73686608A>T, NG_011690.1:g.78729A>T, NW_025791766.1:g.128979A>T, NR_046762.1:n.1765A>T

Select item 14907094482.

rs1490709448 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATTC [Show Flanks]
Chromosome:: 2:73458382 (GRCh38)
2:73685510 (GRCh37)
Canonical SPDI:: NC_000002.12:73458382:ATTCATTCATTC:ATTCATTCATTCATTC
Gene:: ALMS1 (Varview), ALMS1-IT1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: ATTCATTCATTCATTC=0.000071/1 (ALFA)
ATTC=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.73458383ATTC[4], NC_000002.11:g.73685510ATTC[4], NG_011690.1:g.77631ATTC[4], NW_025791766.1:g.127881ATTC[4], NR_046762.1:n.667ATTC[4]

Select item 14905479743.

rs1490547974 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:73458880 (GRCh38)
2:73686007 (GRCh37)
Canonical SPDI:: NC_000002.12:73458879:A:C
Gene:: ALMS1 (Varview), ALMS1-IT1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.73458880A>C, NC_000002.11:g.73686007A>C, NG_011690.1:g.78128A>C, NW_025791766.1:g.128378A>C, NR_046762.1:n.1164A>C

Select item 14880754484.

rs1488075448 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:73459691 (GRCh38)
2:73686818 (GRCh37)
Canonical SPDI:: NC_000002.12:73459690:T:C
Gene:: ALMS1 (Varview), ALMS1-IT1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
T=0.5/1 (SGDP_PRJ)
HGVS:: NC_000002.12:g.73459691T>C, NC_000002.11:g.73686818T>C, NG_011690.1:g.78939T>C, NW_025791766.1:g.129189T>C

Select item 14868679515.

rs1486867951 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:73456365 (GRCh38)
2:73683492 (GRCh37)
Canonical SPDI:: NC_000002.12:73456364:T:A
Gene:: ALMS1 (Varview), ALMS1-IT1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_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_000002.12:g.73456365T>A, NC_000002.11:g.73683492T>A, NG_011690.1:g.75613T>A, NW_025791766.1:g.125863T>A

Select item 14864363006.

rs1486436300 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:73458515 (GRCh38)
2:73685642 (GRCh37)
Canonical SPDI:: NC_000002.12:73458514:A:T
Gene:: ALMS1 (Varview), ALMS1-IT1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.73458515A>T, NC_000002.11:g.73685642A>T, NG_011690.1:g.77763A>T, NW_025791766.1:g.128013A>T, NR_046762.1:n.799A>T

Select item 14851546717.

rs1485154671 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAA>- [Show Flanks]
Chromosome:: 2:73456059 (GRCh38)
2:73683186 (GRCh37)
Canonical SPDI:: NC_000002.12:73456056:AAGAA:AA
Gene:: ALMS1 (Varview), ALMS1-IT1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
HGVS:: NC_000002.12:g.73456059_73456061del, NC_000002.11:g.73683186_73683188del, NG_011690.1:g.75307_75309del, NW_025791766.1:g.125557_125559del

Select item 14851040398.

rs1485104039 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:73458467 (GRCh38)
2:73685594 (GRCh37)
Canonical SPDI:: NC_000002.12:73458466:A:G
Gene:: ALMS1 (Varview), ALMS1-IT1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000094/1 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.73458467A>G, NC_000002.11:g.73685594A>G, NG_011690.1:g.77715A>G, NW_025791766.1:g.127965A>G, NR_046762.1:n.751A>G

Select item 14848969609.

rs1484896960 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 2:73459683 (GRCh38)
2:73686810 (GRCh37)
Canonical SPDI:: NC_000002.12:73459682:T:
Gene:: ALMS1 (Varview), ALMS1-IT1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.73459683del, NC_000002.11:g.73686810del, NG_011690.1:g.78931del, NW_025791766.1:g.129181del

Select item 148478310610.

rs1484783106 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:73457616 (GRCh38)
2:73684743 (GRCh37)
Canonical SPDI:: NC_000002.12:73457615:A:C
Gene:: ALMS1 (Varview), ALMS1-IT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.00007/1 (ALFA)
HGVS:: NC_000002.12:g.73457616A>C, NC_000002.11:g.73684743A>C, NG_011690.1:g.76864A>C, NW_025791766.1:g.127114A>C

Select item 148471907611.

rs1484719076 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:73457307 (GRCh38)
2:73684434 (GRCh37)
Canonical SPDI:: NC_000002.12:73457306:C:G
Gene:: ALMS1 (Varview), ALMS1-IT1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000002.12:g.73457307C>G, NC_000002.11:g.73684434C>G, NG_011690.1:g.76555C>G, NW_025791766.1:g.126805C>G, NR_046762.1:n.205C>G

Select item 148315179812.

rs1483151798 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:73456424 (GRCh38)
2:73683551 (GRCh37)
Canonical SPDI:: NC_000002.12:73456423:T:C
Gene:: ALMS1 (Varview), ALMS1-IT1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_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_000002.12:g.73456424T>C, NC_000002.11:g.73683551T>C, NG_011690.1:g.75672T>C, NW_025791766.1:g.125922T>C

Select item 148278160213.

rs1482781602 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:73458589 (GRCh38)
2:73685716 (GRCh37)
Canonical SPDI:: NC_000002.12:73458588:C:A
Gene:: ALMS1 (Varview), ALMS1-IT1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.00003/8 (TOPMED)
HGVS:: NC_000002.12:g.73458589C>A, NC_000002.11:g.73685716C>A, NG_011690.1:g.77837C>A, NW_025791766.1:g.128087C>A, NR_046762.1:n.873C>A

Select item 148176687214.

rs1481766872 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GG [Show Flanks]
Chromosome:: 2:73455521 (GRCh38)
2:73682649 (GRCh37)
Canonical SPDI:: NC_000002.12:73455521:G:GGG
Gene:: ALMS1 (Varview), ALMS1-IT1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency
MAF:: GG=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.73455522_73455523insGG, NC_000002.11:g.73682649_73682650insGG, NG_011690.1:g.74770_74771insGG, NW_025791766.1:g.125020_125021insGG

Select item 148110498715.

rs1481104987 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:73458437 (GRCh38)
2:73685564 (GRCh37)
Canonical SPDI:: NC_000002.12:73458436:A:G
Gene:: ALMS1 (Varview), ALMS1-IT1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000019/5 (TOPMED)
G=0.000142/2 (TOMMO)
HGVS:: NC_000002.12:g.73458437A>G, NC_000002.11:g.73685564A>G, NG_011690.1:g.77685A>G, NW_025791766.1:g.127935A>G, NR_046762.1:n.721A>G

Select item 148078006916.

rs1480780069 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:73458981 (GRCh38)
2:73686108 (GRCh37)
Canonical SPDI:: NC_000002.12:73458980:C:G
Gene:: ALMS1 (Varview), ALMS1-IT1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.73458981C>G, NC_000002.11:g.73686108C>G, NG_011690.1:g.78229C>G, NW_025791766.1:g.128479C>G, NR_046762.1:n.1265C>G

Select item 147994694917.

rs1479946949 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 2:73457725 (GRCh38)
2:73684853 (GRCh37)
Canonical SPDI:: NC_000002.12:73457725:T:TT
Gene:: ALMS1 (Varview), ALMS1-IT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.73457726dup, NC_000002.11:g.73684853dup, NG_011690.1:g.76974dup, NW_025791766.1:g.127224dup

Select item 147989573518.

rs1479895735 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:73456536 (GRCh38)
2:73683663 (GRCh37)
Canonical SPDI:: NC_000002.12:73456535:C:A,NC_000002.12:73456535:C:T
Gene:: ALMS1 (Varview), ALMS1-IT1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.73456536C>A, NC_000002.12:g.73456536C>T, NC_000002.11:g.73683663C>A, NC_000002.11:g.73683663C>T, NG_011690.1:g.75784C>A, NG_011690.1:g.75784C>T, NW_025791766.1:g.126034C>A, NW_025791766.1:g.126034C>T

Select item 147914943419.

rs1479149434 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:73459471 (GRCh38)
2:73686598 (GRCh37)
Canonical SPDI:: NC_000002.12:73459470:T:C
Gene:: ALMS1 (Varview), ALMS1-IT1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000023/6 (TOPMED)
C=0.000602/10 (TOMMO)
C=0.001711/5 (KOREAN)
C=0.002183/4 (Korea1K)
HGVS:: NC_000002.12:g.73459471T>C, NC_000002.11:g.73686598T>C, NG_011690.1:g.78719T>C, NW_025791766.1:g.128969T>C, NR_046762.1:n.1755T>C

Select item 147868240420.

rs1478682404 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:73455398 (GRCh38)
2:73682525 (GRCh37)
Canonical SPDI:: NC_000002.12:73455397:C:T
Gene:: ALMS1 (Varview), ALMS1-IT1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.73455398C>T, NC_000002.11:g.73682525C>T, NG_011690.1:g.74646C>T, NW_025791766.1:g.124896C>T

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