SNP Links for Gene (Select 84674) - SNP

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Select item 14910320741.

rs1491032074 has merged into rs200993412 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTATTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 5:40848224 (GRCh38)
5:40848326 (GRCh37)
Canonical SPDI:: NC_000005.10:40848210:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:40848210:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:40848210:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:40848210:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:40848210:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:40848210:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:40848210:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000005.10:40848210:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000005.10:40848210:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:40848210:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTT,NC_000005.10:40848210:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CARD6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.21765/1090 (1000Genomes)
HGVS:: NC_000005.10:g.40848224_40848227del, NC_000005.10:g.40848225_40848227del, NC_000005.10:g.40848226_40848227del, NC_000005.10:g.40848227del, NC_000005.10:g.40848227dup, NC_000005.10:g.40848226_40848227dup, NC_000005.10:g.40848225_40848227dup, NC_000005.10:g.40848224_40848227dup, NC_000005.10:g.40848223_40848227dup, NC_000005.10:g.40848211_40848227T[22]ATTTTTTTTTTTTTTTTTTTTT[1], NC_000005.10:g.40848211_40848227T[23]ATTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000005.9:g.40848326_40848329del, NC_000005.9:g.40848327_40848329del, NC_000005.9:g.40848328_40848329del, NC_000005.9:g.40848329del, NC_000005.9:g.40848329dup, NC_000005.9:g.40848328_40848329dup, NC_000005.9:g.40848327_40848329dup, NC_000005.9:g.40848326_40848329dup, NC_000005.9:g.40848325_40848329dup, NC_000005.9:g.40848313_40848329T[22]ATTTTTTTTTTTTTTTTTTTTT[1], NC_000005.9:g.40848313_40848329T[23]ATTTTTTTTTTTTTTTTTTTTTTTTTTTT[1]

Select item 14909804262.

rs1490980426 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:40850273 (GRCh38)
5:40850375 (GRCh37)
Canonical SPDI:: NC_000005.10:40850272:G:T
Gene:: CARD6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.40850273G>T, NC_000005.9:g.40850375G>T

Select item 14908731623.

rs1490873162 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:40849202 (GRCh38)
5:40849304 (GRCh37)
Canonical SPDI:: NC_000005.10:40849201:G:A
Gene:: CARD6 (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_000005.10:g.40849202G>A, NC_000005.9:g.40849304G>A

Select item 14908274524.

rs1490827452 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:40840622 (GRCh38)
5:40840724 (GRCh37)
Canonical SPDI:: NC_000005.10:40840621:T:C
Gene:: CARD6 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.40840622T>C, NC_000005.9:g.40840724T>C

Select item 14907379105.

rs1490737910 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 5:40852412 (GRCh38)
5:40852514 (GRCh37)
Canonical SPDI:: NC_000005.10:40852411:T:G
Gene:: CARD6 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000142/2 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.40852412T>G, NC_000005.9:g.40852514T>G, NM_032587.4:c.1080T>G, NM_032587.3:c.1080T>G, XM_017009989.2:c.522T>G, XM_017009989.1:c.522T>G, XM_047417836.1:c.198T>G

Select item 14906727116.

rs1490672711 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 5:40840154 (GRCh38)
5:40840256 (GRCh37)
Canonical SPDI:: NC_000005.10:40840153:TT:
Gene:: CARD6 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000005.10:g.40840154_40840155del, NC_000005.9:g.40840256_40840257del

Select item 14905741757.

rs1490574175 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:40853620 (GRCh38)
5:40853722 (GRCh37)
Canonical SPDI:: NC_000005.10:40853619:C:G
Gene:: CARD6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.40853620C>G, NC_000005.9:g.40853722C>G, NM_032587.4:c.2288C>G, NM_032587.3:c.2288C>G, XM_017009989.2:c.1730C>G, XM_017009989.1:c.1730C>G, XM_047417836.1:c.1406C>G, NP_115976.2:p.Pro763Arg, XP_016865478.1:p.Pro577Arg, XP_047273792.1:p.Pro469Arg

Select item 14904884258.

rs1490488425 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 5:40849886 (GRCh38)
5:40849988 (GRCh37)
Canonical SPDI:: NC_000005.10:40849885:A:
Gene:: CARD6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000015/4 (TOPMED)
HGVS:: NC_000005.10:g.40849886del, NC_000005.9:g.40849988del

Select item 14903809339.

rs1490380933 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:40848749 (GRCh38)
5:40848851 (GRCh37)
Canonical SPDI:: NC_000005.10:40848748:T:C
Gene:: CARD6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.40848749T>C, NC_000005.9:g.40848851T>C

Select item 149034678310.

rs1490346783 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 5:40841331 (GRCh38)
5:40841433 (GRCh37)
Canonical SPDI:: NC_000005.10:40841330:TT:T
Gene:: CARD6 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.40841332del, NC_000005.9:g.40841434del, NM_032587.3:c.-51del

Select item 149007472111.

rs1490074721 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:40843209 (GRCh38)
5:40843311 (GRCh37)
Canonical SPDI:: NC_000005.10:40843208:C:T
Gene:: CARD6 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.40843209C>T, NC_000005.9:g.40843311C>T, NM_032587.4:c.341C>T, NM_032587.3:c.341C>T, NP_115976.2:p.Ser114Leu

Select item 148991182612.

rs1489911826 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:40843595 (GRCh38)
5:40843697 (GRCh37)
Canonical SPDI:: NC_000005.10:40843594:G:A
Gene:: CARD6 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000005.10:g.40843595G>A, NC_000005.9:g.40843697G>A, NM_032587.4:c.727G>A, NM_032587.3:c.727G>A, NP_115976.2:p.Gly243Ser

Select item 148976425813.

rs1489764258 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:40841962 (GRCh38)
5:40842064 (GRCh37)
Canonical SPDI:: NC_000005.10:40841961:G:A
Gene:: CARD6 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.40841962G>A, NC_000005.9:g.40842064G>A

Select item 148954199314.

rs1489541993 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:40841528 (GRCh38)
5:40841630 (GRCh37)
Canonical SPDI:: NC_000005.10:40841527:A:G
Gene:: CARD6 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.40841528A>G, NC_000005.9:g.40841630A>G, NM_032587.4:c.146A>G, NM_032587.3:c.146A>G, XM_017009989.2:c.146A>G, XM_017009989.1:c.146A>G, NP_115976.2:p.Asn49Ser, XP_016865478.1:p.Asn49Ser

Select item 148935941915.

rs1489359419 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 5:40854115 (GRCh38)
5:40854217 (GRCh37)
Canonical SPDI:: NC_000005.10:40854114:C:G,NC_000005.10:40854114:C:T
Gene:: CARD6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.40854115C>G, NC_000005.10:g.40854115C>T, NC_000005.9:g.40854217C>G, NC_000005.9:g.40854217C>T, NM_032587.4:c.2783C>G, NM_032587.4:c.2783C>T, NM_032587.3:c.2783C>G, NM_032587.3:c.2783C>T, XM_017009989.2:c.2225C>G, XM_017009989.2:c.2225C>T, XM_017009989.1:c.2225C>G, XM_017009989.1:c.2225C>T, XM_047417836.1:c.1901C>G, XM_047417836.1:c.1901C>T, NP_115976.2:p.Ala928Gly, NP_115976.2:p.Ala928Val, XP_016865478.1:p.Ala742Gly, XP_016865478.1:p.Ala742Val, XP_047273792.1:p.Ala634Gly, XP_047273792.1:p.Ala634Val

Select item 148917275516.

rs1489172755 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:40851642 (GRCh38)
5:40851744 (GRCh37)
Canonical SPDI:: NC_000005.10:40851641:C:T
Gene:: CARD6 (Varview)
Functional Consequence:: intron_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_000005.10:g.40851642C>T, NC_000005.9:g.40851744C>T

Select item 148913222317.

rs1489132223 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 5:40854668 (GRCh38)
5:40854770 (GRCh37)
Canonical SPDI:: NC_000005.10:40854667:G:A,NC_000005.10:40854667:G:T
Gene:: CARD6 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.40854668G>A, NC_000005.10:g.40854668G>T, NC_000005.9:g.40854770G>A, NC_000005.9:g.40854770G>T, NM_032587.4:c.*222G>A, NM_032587.4:c.*222G>T, NM_032587.3:c.*222G>A, NM_032587.3:c.*222G>T, XM_017009989.2:c.*222G>A, XM_017009989.2:c.*222G>T, XM_017009989.1:c.*222G>A, XM_017009989.1:c.*222G>T, XM_047417836.1:c.*222G>A, XM_047417836.1:c.*222G>T

Select item 148879827218.

rs1488798272 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 5:40851735 (GRCh38)
5:40851837 (GRCh37)
Canonical SPDI:: NC_000005.10:40851734:G:A,NC_000005.10:40851734:G:C
Gene:: CARD6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.40851735G>A, NC_000005.10:g.40851735G>C, NC_000005.9:g.40851837G>A, NC_000005.9:g.40851837G>C

Select item 148832950519.

rs1488329505 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:40852376 (GRCh38)
5:40852478 (GRCh37)
Canonical SPDI:: NC_000005.10:40852375:G:T
Gene:: CARD6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.40852376G>T, NC_000005.9:g.40852478G>T, NM_032587.4:c.1044G>T, NM_032587.3:c.1044G>T, XM_017009989.2:c.486G>T, XM_017009989.1:c.486G>T, XM_047417836.1:c.162G>T, NP_115976.2:p.Lys348Asn, XP_016865478.1:p.Lys162Asn, XP_047273792.1:p.Lys54Asn

Select item 148828361520.

rs1488283615 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:40846440 (GRCh38)
5:40846542 (GRCh37)
Canonical SPDI:: NC_000005.10:40846439:C:T
Gene:: CARD6 (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_000005.10:g.40846440C>T, NC_000005.9:g.40846542C>T

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