SNP Links for Gene (Select 1535) - SNP

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Select item 14915748231.

rs1491574823 [Homo sapiens]

Variant type:: INS
Alleles:: ->TG [Show Flanks]
Chromosome:: 16:88648757 (GRCh38)
16:88715166 (GRCh37)
Canonical SPDI:: NC_000016.10:88648757::TG
Gene:: CYBA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TG=0.00134/6 (ALFA)
TG=0.00035/10 (TOMMO)
TG=0.00062/4 (1000Genomes)
TG=0.00134/6 (Estonian)
HGVS:: NC_000016.10:g.88648757_88648758insTG, NC_000016.9:g.88715165_88715166insTG, NG_007291.1:g.7292_7293insCA

Select item 14915549552.

rs1491554955 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 16:88648937 (GRCh38)
16:88715345 (GRCh37)
Canonical SPDI:: NC_000016.10:88648935:TCT:T
Gene:: CYBA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000016.10:g.88648937_88648938del, NC_000016.9:g.88715345_88715346del, NG_007291.1:g.7113_7114del

Select item 14914234643.

rs1491423464 [Homo sapiens]

Variant type:: SNV:
Alleles:: CA>-
Chromosome:: no mapping
Canonical SPDI:

Select item 14912414694.

rs1491241469 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 16:88648936 (GRCh38)
16:88715345 (GRCh37)
Canonical SPDI:: NC_000016.10:88648936::A
Gene:: CYBA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: A=0.000008/1 (GnomAD)
HGVS:: NC_000016.10:g.88648936_88648937insA, NC_000016.9:g.88715344_88715345insA, NG_007291.1:g.7113_7114insT

Select item 14912335395.

rs1491233539 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 16:88652830 (GRCh38)
16:88719239 (GRCh37)
Canonical SPDI:: NC_000016.10:88652830:GGGGGG:GGGGGGG
Gene:: CYBA (Varview), MVD (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GGGGGGG=0./0 (ALFA)
HGVS:: NC_000016.10:g.88652836dup, NC_000016.9:g.88719244dup, NG_052674.1:g.15323dup, NG_007291.1:g.3219dup

Select item 14906189786.

rs1490618978 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGA>-,GA,GAGAGA [Show Flanks]
Chromosome:: 16:88645606 (GRCh38)
16:88712014 (GRCh37)
Canonical SPDI:: NC_000016.10:88645602:AGAGAGA:AGA,NC_000016.10:88645602:AGAGAGA:AGAGA,NC_000016.10:88645602:AGAGAGA:AGAGAGAGA
Gene:: CYBA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGA=0./0 (ALFA)
-=0.000014/2 (GnomAD)
AG=0.000035/1 (TOMMO)
HGVS:: NC_000016.10:g.88645604GA[1], NC_000016.10:g.88645604GA[2], NC_000016.10:g.88645604GA[4], NC_000016.9:g.88712012GA[1], NC_000016.9:g.88712012GA[2], NC_000016.9:g.88712012GA[4], NG_007291.1:g.10442CT[1], NG_007291.1:g.10442CT[2], NG_007291.1:g.10442CT[4]

Select item 14903071027.

rs1490307102 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:88646314 (GRCh38)
16:88712722 (GRCh37)
Canonical SPDI:: NC_000016.10:88646313:G:A
Gene:: CYBA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000016.10:g.88646314G>A, NC_000016.9:g.88712722G>A, NG_007291.1:g.9736C>T

Select item 14902819248.

rs1490281924 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:88645579 (GRCh38)
16:88711987 (GRCh37)
Canonical SPDI:: NC_000016.10:88645578:C:T
Gene:: CYBA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
T=0.004673/1 (Vietnamese)
HGVS:: NC_000016.10:g.88645579C>T, NC_000016.9:g.88711987C>T, NG_007291.1:g.10471G>A

Select item 14897871469.

rs1489787146 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:88645880 (GRCh38)
16:88712288 (GRCh37)
Canonical SPDI:: NC_000016.10:88645879:T:C
Gene:: CYBA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
HGVS:: NC_000016.10:g.88645880T>C, NC_000016.9:g.88712288T>C, NG_007291.1:g.10170A>G

Select item 148971639410.

rs1489716394 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:88646089 (GRCh38)
16:88712497 (GRCh37)
Canonical SPDI:: NC_000016.10:88646088:G:C
Gene:: CYBA (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000016.10:g.88646089G>C, NC_000016.9:g.88712497G>C, NG_007291.1:g.9961C>G

Select item 148951813811.

rs1489518138 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 16:88647589 (GRCh38)
16:88713997 (GRCh37)
Canonical SPDI:: NC_000016.10:88647588:C:A,NC_000016.10:88647588:C:T
Gene:: CYBA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000016.10:g.88647589C>A, NC_000016.10:g.88647589C>T, NC_000016.9:g.88713997C>A, NC_000016.9:g.88713997C>T, NG_007291.1:g.8461G>T, NG_007291.1:g.8461G>A

Select item 148937725512.

rs1489377255 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 16:88652963 (GRCh38)
16:88719371 (GRCh37)
Canonical SPDI:: NC_000016.10:88652962:C:A,NC_000016.10:88652962:C:G,NC_000016.10:88652962:C:T
Gene:: CYBA (Varview), MVD (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000016.10:g.88652963C>A, NC_000016.10:g.88652963C>G, NC_000016.10:g.88652963C>T, NC_000016.9:g.88719371C>A, NC_000016.9:g.88719371C>G, NC_000016.9:g.88719371C>T, NG_052674.1:g.15191G>T, NG_052674.1:g.15191G>C, NG_052674.1:g.15191G>A, NG_007291.1:g.3087G>T, NG_007291.1:g.3087G>C, NG_007291.1:g.3087G>A

Select item 148885238713.

rs1488852387 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 16:88644695 (GRCh38)
16:88711103 (GRCh37)
Canonical SPDI:: NC_000016.10:88644694:C:G,NC_000016.10:88644694:C:T
Gene:: CYBA (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (KOREAN)
T=0.000034/9 (TOPMED)
HGVS:: NC_000016.10:g.88644695C>G, NC_000016.10:g.88644695C>T, NC_000016.9:g.88711103C>G, NC_000016.9:g.88711103C>T, NG_007291.1:g.11355G>C, NG_007291.1:g.11355G>A, XM_011522905.4:c.*471G>C, XM_011522905.4:c.*471G>A, XM_011522905.3:c.*471G>C, XM_011522905.3:c.*471G>A, XM_011522905.2:c.*471G>C, XM_011522905.2:c.*471G>A

Select item 148869163014.

rs1488691630 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 16:88651036 (GRCh38)
16:88717444 (GRCh37)
Canonical SPDI:: NC_000016.10:88651035:C:A,NC_000016.10:88651035:C:T
Gene:: CYBA (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by cluster
MAF:: T=0.000005/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.88651036C>A, NC_000016.10:g.88651036C>T, NC_000016.9:g.88717444C>A, NC_000016.9:g.88717444C>T, NG_052674.1:g.17118G>T, NG_052674.1:g.17118G>A, NG_007291.1:g.5014G>T, NG_007291.1:g.5014G>A, NM_000101.4:c.-23G>T, NM_000101.4:c.-23G>A, NM_000101.3:c.-23G>T, NM_000101.3:c.-23G>A, XM_011522905.4:c.-23G>T, XM_011522905.4:c.-23G>A, XM_011522905.3:c.-23G>T, XM_011522905.3:c.-23G>A, XM_011522905.2:c.-23G>T, XM_011522905.2:c.-23G>A, XM_011522905.1:c.-23G>T, XM_011522905.1:c.-23G>A

Select item 148868353715.

rs1488683537 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:88643175 (GRCh38)
16:88709583 (GRCh37)
Canonical SPDI:: NC_000016.10:88643174:T:C
Gene:: CYBA (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_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_000016.10:g.88643175T>C, NC_000016.9:g.88709583T>C, NG_007291.1:g.12875A>G

Select item 148857301516.

rs1488573015 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:88647959 (GRCh38)
16:88714367 (GRCh37)
Canonical SPDI:: NC_000016.10:88647958:G:A
Gene:: CYBA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.88647959G>A, NC_000016.9:g.88714367G>A, NG_007291.1:g.8091C>T

Select item 148817818917.

rs1488178189 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:88643316 (GRCh38)
16:88709724 (GRCh37)
Canonical SPDI:: NC_000016.10:88643315:T:C
Gene:: CYBA (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000024/2 (GnomAD_exomes)
HGVS:: NC_000016.10:g.88643316T>C, NC_000016.9:g.88709724T>C, NG_007291.1:g.12734A>G, NM_000101.4:c.*37A>G, NM_000101.3:c.*37A>G, XM_011522905.4:c.*1850A>G

Select item 148810961718.

rs1488109617 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 16:88652174 (GRCh38)
16:88718582 (GRCh37)
Canonical SPDI:: NC_000016.10:88652173:C:A,NC_000016.10:88652173:C:T
Gene:: CYBA (Varview), MVD (Varview)
Functional Consequence:: 2KB_upstream_variant,3_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.88652174C>A, NC_000016.10:g.88652174C>T, NC_000016.9:g.88718582C>A, NC_000016.9:g.88718582C>T, NG_052674.1:g.15980G>T, NG_052674.1:g.15980G>A, NM_002461.3:c.*351G>T, NM_002461.3:c.*351G>A, NM_002461.2:c.*351G>T, NM_002461.2:c.*351G>A, NM_002461.1:c.*351G>T, NM_002461.1:c.*351G>A, NG_007291.1:g.3876G>T, NG_007291.1:g.3876G>A, XM_011523089.3:c.*351G>T, XM_011523089.3:c.*351G>A, XM_011523089.2:c.*351G>T, XM_011523089.2:c.*351G>A, XM_011523089.1:c.*351G>T, XM_011523089.1:c.*351G>A, XM_011523087.3:c.*351G>T, XM_011523087.3:c.*351G>A, XM_011523087.2:c.*351G>T, XM_011523087.2:c.*351G>A, XM_011523087.1:c.*351G>T, XM_011523087.1:c.*351G>A, XM_011523086.3:c.*351G>T, XM_011523086.3:c.*351G>A, XM_011523086.2:c.*351G>T, XM_011523086.2:c.*351G>A, XM_011523086.1:c.*351G>T, XM_011523086.1:c.*351G>A, XM_011523088.3:c.*351G>T, XM_011523088.3:c.*351G>A, XM_011523088.2:c.*351G>T, XM_011523088.2:c.*351G>A, XM_011523088.1:c.*351G>T, XM_011523088.1:c.*351G>A

Select item 148804043319.

rs1488040433 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 16:88650490 (GRCh38)
16:88716898 (GRCh37)
Canonical SPDI:: NC_000016.10:88650489:T:A
Gene:: CYBA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.88650490T>A, NC_000016.9:g.88716898T>A, NG_052674.1:g.17664A>T, NG_007291.1:g.5560A>T

Select item 148789915820.

rs1487899158 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 16:88647799 (GRCh38)
16:88714207 (GRCh37)
Canonical SPDI:: NC_000016.10:88647798:C:A
Gene:: CYBA (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_000016.10:g.88647799C>A, NC_000016.9:g.88714207C>A, NG_007291.1:g.8251G>T

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