SNP Links for Nucleotide (Select 298676454) - SNP

Links from Nucleotide

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Select item 14912765161.

rs1491276516 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 9:136377632 (GRCh38)
9:139272084 (GRCh37)
Canonical SPDI:: NC_000009.12:136377631:CA:
Gene:: SNAPC4 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.136377632_136377633del, NC_000009.11:g.139272084_139272085del, NG_051233.1:g.27588_27589del, NM_003086.4:c.4194_4195del, NM_003086.3:c.4194_4195del, NM_003086.2:c.4194_4195del, NM_001394201.1:c.4194_4195del, NM_001394202.1:c.4110_4111del, NM_001394203.1:c.4110_4111del, NG_021197.1:g.1049_1050del, XM_006717242.5:c.4194_4195del, XM_006717242.4:c.4194_4195del, XM_006717242.3:c.4194_4195del, XM_006717242.2:c.4194_4195del, XM_006717242.1:c.4194_4195del, XM_006717244.3:c.2406_2407del, XM_006717244.2:c.2406_2407del, XM_006717244.1:c.2406_2407del, XM_047423780.1:c.4110_4111del, NP_003077.2:p.Glu1399_Ser1400insTer, NP_001381130.1:p.Glu1399_Ser1400insTer, NP_001381131.1:p.Glu1371_Ser1372insTer, NP_001381132.1:p.Glu1371_Ser1372insTer, XP_006717305.1:p.Glu1399_Ser1400insTer, XP_006717307.1:p.Glu803_Ser804insTer, XP_047279736.1:p.Glu1371_Ser1372insTer

Select item 14912220142.

rs1491222014 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 9:136377632 (GRCh38)
9:139272085 (GRCh37)
Canonical SPDI:: NC_000009.12:136377632:A:AA
Gene:: SNAPC4 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.136377633dup, NC_000009.11:g.139272085dup, NG_051233.1:g.27588dup, NM_003086.4:c.4194dup, NM_003086.3:c.4194dup, NM_003086.2:c.4194dup, NM_001394201.1:c.4194dup, NM_001394202.1:c.4110dup, NM_001394203.1:c.4110dup, NG_021197.1:g.1049dup, XM_006717242.5:c.4194dup, XM_006717242.4:c.4194dup, XM_006717242.3:c.4194dup, XM_006717242.2:c.4194dup, XM_006717242.1:c.4194dup, XM_006717244.3:c.2406dup, XM_006717244.2:c.2406dup, XM_006717244.1:c.2406dup, XM_047423780.1:c.4110dup, NP_003077.2:p.Glu1399Ter, NP_001381130.1:p.Glu1399Ter, NP_001381131.1:p.Glu1371Ter, NP_001381132.1:p.Glu1371Ter, XP_006717305.1:p.Glu1399Ter, XP_006717307.1:p.Glu803Ter, XP_047279736.1:p.Glu1371Ter

Select item 14909686503.

rs1490968650 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 9:136362938 (GRCh38)
9:139257390 (GRCh37)
Canonical SPDI:: NC_000009.12:136362937:C:G
Gene:: DNLZ (Varview), LOC124902309 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.136362938C>G, NC_000009.11:g.139257390C>G, NG_021197.1:g.15744G>C

Select item 14909042904.

rs1490904290 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:136364011 (GRCh38)
9:139258463 (GRCh37)
Canonical SPDI:: NC_000009.12:136364010:T:C
Gene:: CARD9 (Varview), DNLZ (Varview), LOC124902309 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,3_prime_UTR_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.136364011T>C, NC_000009.11:g.139258463T>C, NG_021197.1:g.14671A>G, NM_052813.5:c.*291A>G, NM_052813.4:c.*291A>G, NM_052814.4:c.*114A>G, NM_052814.3:c.*114A>G, NM_022352.2:c.*875A>G, NM_022352.1:c.*875A>G

Select item 14908627445.

rs1490862744 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:136371342 (GRCh38)
9:139265794 (GRCh37)
Canonical SPDI:: NC_000009.12:136371341:C:T
Gene:: CARD9 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000009.12:g.136371342C>T, NC_000009.11:g.139265794C>T, NG_021197.1:g.7340G>A, NM_052813.5:c.304G>A, NM_052813.4:c.304G>A, NM_052814.4:c.304G>A, NM_052814.3:c.304G>A, NM_022352.2:c.304G>A, NM_022352.1:c.304G>A, NP_434700.2:p.Val102Ile, NP_434701.1:p.Val102Ile

Select item 14908615626.

rs1490861562 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:136368173 (GRCh38)
9:139262625 (GRCh37)
Canonical SPDI:: NC_000009.12:136368172:G:A
Gene:: CARD9 (Varview), LOC124902309 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000021/3 (GnomAD)
A=0.000026/7 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000009.12:g.136368173G>A, NC_000009.11:g.139262625G>A, NG_021197.1:g.10509C>T, XR_007061863.1:n.634G>A

Select item 14908459377.

rs1490845937 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 9:136370011 (GRCh38)
9:139264463 (GRCh37)
Canonical SPDI:: NC_000009.12:136370010:G:A,NC_000009.12:136370010:G:T
Gene:: CARD9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00033/5 (ALFA)
A=0.000004/1 (TOPMED)
T=0.000029/4 (GnomAD)
T=0.001116/5 (Estonian)
HGVS:: NC_000009.12:g.136370011G>A, NC_000009.12:g.136370011G>T, NC_000009.11:g.139264463G>A, NC_000009.11:g.139264463G>T, NG_021197.1:g.8671C>T, NG_021197.1:g.8671C>A

Select item 14906404598.

rs1490640459 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:136377579 (GRCh38)
9:139272031 (GRCh37)
Canonical SPDI:: NC_000009.12:136377578:C:T
Gene:: SNAPC4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.136377579C>T, NC_000009.11:g.139272031C>T, NG_051233.1:g.27642G>A, NM_003086.4:c.4248G>A, NM_003086.3:c.4248G>A, NM_003086.2:c.4248G>A, NM_001394201.1:c.4248G>A, NM_001394202.1:c.4164G>A, NM_001394203.1:c.4164G>A, NG_021197.1:g.1103G>A, XM_006717242.5:c.4248G>A, XM_006717242.4:c.4248G>A, XM_006717242.3:c.4248G>A, XM_006717242.2:c.4248G>A, XM_006717242.1:c.4248G>A, XM_006717244.3:c.2460G>A, XM_006717244.2:c.2460G>A, XM_006717244.1:c.2460G>A, XM_047423780.1:c.4164G>A

Select item 14905457409.

rs1490545740 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 9:136366954 (GRCh38)
9:139261406 (GRCh37)
Canonical SPDI:: NC_000009.12:136366953:C:A,NC_000009.12:136366953:C:T
Gene:: CARD9 (Varview), LOC124902309 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000009.12:g.136366954C>A, NC_000009.12:g.136366954C>T, NC_000009.11:g.139261406C>A, NC_000009.11:g.139261406C>T, NG_021197.1:g.11728G>T, NG_021197.1:g.11728G>A

Select item 149011867910.

rs1490118679 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:136363612 (GRCh38)
9:139258064 (GRCh37)
Canonical SPDI:: NC_000009.12:136363611:C:T
Gene:: CARD9 (Varview), DNLZ (Varview), LOC124902309 (Varview)
Functional Consequence:: intron_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,500B_downstream_variant,downstream_transcript_variant
HGVS:: NC_000009.12:g.136363612C>T, NC_000009.11:g.139258064C>T, NG_021197.1:g.15070G>A, NM_001080849.3:c.103G>A, NM_001080849.2:c.103G>A, NR_073565.2:n.133G>A, NR_073565.1:n.200G>A, NP_001074318.1:p.Val35Ile

Select item 148995618811.

rs1489956188 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 9:136364004 (GRCh38)
9:139258456 (GRCh37)
Canonical SPDI:: NC_000009.12:136364003:A:C
Gene:: CARD9 (Varview), DNLZ (Varview), LOC124902309 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,3_prime_UTR_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000007/1 (GnomAD_exomes)
C=0.000023/6 (TOPMED)
HGVS:: NC_000009.12:g.136364004A>C, NC_000009.11:g.139258456A>C, NG_021197.1:g.14678T>G, NM_052813.5:c.*298T>G, NM_052813.4:c.*298T>G, NM_052814.4:c.*121T>G, NM_052814.3:c.*121T>G, NM_022352.2:c.*882T>G, NM_022352.1:c.*882T>G

Select item 148992491412.

rs1489924914 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 9:136364487 (GRCh38)
9:139258939 (GRCh37)
Canonical SPDI:: NC_000009.12:136364486:G:A,NC_000009.12:136364486:G:C
Gene:: CARD9 (Varview), DNLZ (Varview), LOC124902309 (Varview)
Functional Consequence:: intron_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000014/2 (GnomAD_exomes)
HGVS:: NC_000009.12:g.136364487G>A, NC_000009.12:g.136364487G>C, NC_000009.11:g.139258939G>A, NC_000009.11:g.139258939G>C, NG_021197.1:g.14195C>T, NG_021197.1:g.14195C>G, NM_052813.5:c.1507C>T, NM_052813.5:c.1507C>G, NM_052813.4:c.1507C>T, NM_052813.4:c.1507C>G, NM_022352.2:c.*554C>T, NM_022352.2:c.*554C>G, NM_022352.1:c.*554C>T, NM_022352.1:c.*554C>G, NP_434700.2:p.Arg503Cys, NP_434700.2:p.Arg503Gly

Select item 148987031113.

rs1489870311 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 9:136378449 (GRCh38)
9:139272901 (GRCh37)
Canonical SPDI:: NC_000009.12:136378448:C:G
Gene:: SNAPC4 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.136378449C>G, NC_000009.11:g.139272901C>G, NG_051233.1:g.26772G>C, NM_003086.4:c.3378G>C, NM_003086.3:c.3378G>C, NM_003086.2:c.3378G>C, NM_001394201.1:c.3378G>C, NM_001394202.1:c.3294G>C, NM_001394203.1:c.3294G>C, NG_021197.1:g.233G>C, XM_006717242.5:c.3378G>C, XM_006717242.4:c.3378G>C, XM_006717242.3:c.3378G>C, XM_006717242.2:c.3378G>C, XM_006717242.1:c.3378G>C, XM_006717244.3:c.1590G>C, XM_006717244.2:c.1590G>C, XM_006717244.1:c.1590G>C, XM_047423780.1:c.3294G>C, XM_047423781.1:c.*262G>C, NP_003077.2:p.Arg1126Ser, NP_001381130.1:p.Arg1126Ser, NP_001381131.1:p.Arg1098Ser, NP_001381132.1:p.Arg1098Ser, XP_006717305.1:p.Arg1126Ser, XP_006717307.1:p.Arg530Ser, XP_047279736.1:p.Arg1098Ser

Select item 148985188414.

rs1489851884 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:136368295 (GRCh38)
9:139262747 (GRCh37)
Canonical SPDI:: NC_000009.12:136368294:C:T
Gene:: CARD9 (Varview), LOC124902309 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000023/6 (TOPMED)
T=0.000036/5 (GnomAD)
HGVS:: NC_000009.12:g.136368295C>T, NC_000009.11:g.139262747C>T, NG_021197.1:g.10387G>A, XR_007061863.1:n.756C>T

Select item 148958005815.

rs1489580058 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:136368616 (GRCh38)
9:139263068 (GRCh37)
Canonical SPDI:: NC_000009.12:136368615:T:C
Gene:: CARD9 (Varview), LOC124902309 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000009.12:g.136368616T>C, NC_000009.11:g.139263068T>C, NG_021197.1:g.10066A>G, XR_007061863.1:n.1077T>C

Select item 148906554016.

rs1489065540 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:136373161 (GRCh38)
9:139267613 (GRCh37)
Canonical SPDI:: NC_000009.12:136373160:A:G
Gene:: CARD9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000009.12:g.136373161A>G, NC_000009.11:g.139267613A>G, NG_021197.1:g.5521T>C

Select item 148902458817.

rs1489024588 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 9:136365216 (GRCh38)
9:139259668 (GRCh37)
Canonical SPDI:: NC_000009.12:136365215:G:A,NC_000009.12:136365215:G:T
Gene:: CARD9 (Varview), DNLZ (Varview), LOC124902309 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant,2KB_upstream_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.136365216G>A, NC_000009.12:g.136365216G>T, NC_000009.11:g.139259668G>A, NC_000009.11:g.139259668G>T, NG_021197.1:g.13466C>T, NG_021197.1:g.13466C>A, NM_052813.5:c.1359C>T, NM_052813.5:c.1359C>A, NM_052813.4:c.1359C>T, NM_052813.4:c.1359C>A, NM_052814.4:c.1359C>T, NM_052814.4:c.1359C>A, NM_052814.3:c.1359C>T, NM_052814.3:c.1359C>A, NM_022352.2:c.*406C>T, NM_022352.2:c.*406C>A, NM_022352.1:c.*406C>T, NM_022352.1:c.*406C>A

Select item 148902198618.

rs1489021986 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:136365451 (GRCh38)
9:139259903 (GRCh37)
Canonical SPDI:: NC_000009.12:136365450:C:T
Gene:: CARD9 (Varview), DNLZ (Varview), LOC124902309 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.136365451C>T, NC_000009.11:g.139259903C>T, NG_021197.1:g.13231G>A

Select item 148892691019.

rs1488926910 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:136378455 (GRCh38)
9:139272907 (GRCh37)
Canonical SPDI:: NC_000009.12:136378454:G:A
Gene:: SNAPC4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.136378455G>A, NC_000009.11:g.139272907G>A, NG_051233.1:g.26766C>T, NM_003086.4:c.3372C>T, NM_003086.3:c.3372C>T, NM_003086.2:c.3372C>T, NM_001394201.1:c.3372C>T, NM_001394202.1:c.3288C>T, NM_001394203.1:c.3288C>T, NG_021197.1:g.227C>T, XM_006717242.5:c.3372C>T, XM_006717242.4:c.3372C>T, XM_006717242.3:c.3372C>T, XM_006717242.2:c.3372C>T, XM_006717242.1:c.3372C>T, XM_006717244.3:c.1584C>T, XM_006717244.2:c.1584C>T, XM_006717244.1:c.1584C>T, XM_047423780.1:c.3288C>T, XM_047423781.1:c.*256C>T

Select item 148883247020.

rs1488832470 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:136374205 (GRCh38)
9:139268657 (GRCh37)
Canonical SPDI:: NC_000009.12:136374204:C:T
Gene:: CARD9 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.136374205C>T, NC_000009.11:g.139268657C>T, NG_051233.1:g.31016G>A, NG_021197.1:g.4477G>A

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