SNP Links for Gene (Select 6318) - SNP

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Select item 14906405971.

rs1490640597 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATT>- [Show Flanks]
Chromosome:: 18:63639868 (GRCh38)
18:61307102 (GRCh37)
Canonical SPDI:: NC_000018.10:63639866:TTATT:T
Gene:: SERPINB4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.0002/1 (ALFA)
HGVS:: NC_000018.10:g.63639868_63639871del, NC_000018.9:g.61307102_61307105del, NG_053001.1:g.9450_9453del

Select item 14905533462.

rs1490553346 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:63638274 (GRCh38)
18:61305508 (GRCh37)
Canonical SPDI:: NC_000018.10:63638273:A:G
Gene:: SERPINB4 (Varview)
Functional Consequence:: intron_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_000018.10:g.63638274A>G, NC_000018.9:g.61305508A>G, NG_053001.1:g.11046T>C

Select item 14905174013.

rs1490517401 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 18:63638952 (GRCh38)
18:61306186 (GRCh37)
Canonical SPDI:: NC_000018.10:63638951:A:C,NC_000018.10:63638951:A:G
Gene:: SERPINB4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000018.10:g.63638952A>C, NC_000018.10:g.63638952A>G, NC_000018.9:g.61306186A>C, NC_000018.9:g.61306186A>G, NG_053001.1:g.10368T>G, NG_053001.1:g.10368T>C

Select item 14904874294.

rs1490487429 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:63645389 (GRCh38)
18:61312623 (GRCh37)
Canonical SPDI:: NC_000018.10:63645388:G:A
Gene:: SERPINB4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000018.10:g.63645389G>A, NC_000018.9:g.61312623G>A, NG_053001.1:g.3931C>T

Select item 14904555065.

rs1490455506 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 18:63644651 (GRCh38)
18:61311885 (GRCh37)
Canonical SPDI:: NC_000018.10:63644650:C:G
Gene:: SERPINB4 (Varview)
Functional Consequence:: 2KB_upstream_variant,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_000018.10:g.63644651C>G, NC_000018.9:g.61311885C>G, NG_053001.1:g.4669G>C

Select item 14900991976.

rs1490099197 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:63642498 (GRCh38)
18:61309732 (GRCh37)
Canonical SPDI:: NC_000018.10:63642497:T:C
Gene:: SERPINB4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.63642498T>C, NC_000018.9:g.61309732T>C, NG_053001.1:g.6822A>G

Select item 14896781027.

rs1489678102 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 18:63637135 (GRCh38)
18:61304369 (GRCh37)
Canonical SPDI:: NC_000018.10:63637134:G:C
Gene:: SERPINB4 (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_000018.10:g.63637135G>C, NC_000018.9:g.61304369G>C, NG_053001.1:g.12185C>G

Select item 14892184308.

rs1489218430 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 18:63644662 (GRCh38)
18:61311896 (GRCh37)
Canonical SPDI:: NC_000018.10:63644661:A:C,NC_000018.10:63644661:A:G
Gene:: SERPINB4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000004/1 (TOPMED)
G=0.000035/1 (TOMMO)
G=0.000342/1 (KOREAN)
HGVS:: NC_000018.10:g.63644662A>C, NC_000018.10:g.63644662A>G, NC_000018.9:g.61311896A>C, NC_000018.9:g.61311896A>G, NG_053001.1:g.4658T>G, NG_053001.1:g.4658T>C

Select item 14889897289.

rs1488989728 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 18:63637728 (GRCh38)
18:61304962 (GRCh37)
Canonical SPDI:: NC_000018.10:63637727:T:G
Gene:: SERPINB4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000018.10:g.63637728T>G, NC_000018.9:g.61304962T>G, NG_053001.1:g.11592A>C, NM_002974.4:c.1164A>C, NM_002974.3:c.1164A>C, NM_002974.2:c.1164A>C, NM_175041.2:c.1101A>C, NM_175041.1:c.1101A>C, XM_011526138.2:c.1164A>C, XM_011526138.1:c.1164A>C

Select item 148846639710.

rs1488466397 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 18:63644117 (GRCh38)
18:61311351 (GRCh37)
Canonical SPDI:: NC_000018.10:63644115:AGA:A
Gene:: SERPINB4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000162/3 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000018.10:g.63644117_63644118del, NC_000018.9:g.61311351_61311352del, NG_053001.1:g.5203_5204del

Select item 148823258811.

rs1488232588 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:63637344 (GRCh38)
18:61304578 (GRCh37)
Canonical SPDI:: NC_000018.10:63637343:A:G
Gene:: SERPINB4 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000018.10:g.63637344A>G, NC_000018.9:g.61304578A>G, NG_053001.1:g.11976T>C, NM_002974.4:c.*375T>C, NM_002974.3:c.*375T>C, NM_002974.2:c.*375T>C, NM_175041.2:c.*375T>C, NM_175041.1:c.*375T>C, XM_011526138.2:c.*375T>C, XM_011526138.1:c.*375T>C

Select item 148815343812.

rs1488153438 [Homo sapiens]

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

Select item 148795247513.

rs1487952475 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:63644420 (GRCh38)
18:61311654 (GRCh37)
Canonical SPDI:: NC_000018.10:63644419:T:C
Gene:: SERPINB4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000023/6 (TOPMED)
C=0.000248/4 (TOMMO)
C=0.000546/1 (Korea1K)
HGVS:: NC_000018.10:g.63644420T>C, NC_000018.9:g.61311654T>C, NG_053001.1:g.4900A>G

Select item 148756427714.

rs1487564277 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 18:63645459 (GRCh38)
18:61312693 (GRCh37)
Canonical SPDI:: NC_000018.10:63645458:C:G
Gene:: SERPINB4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000018.10:g.63645459C>G, NC_000018.9:g.61312693C>G, NG_053001.1:g.3861G>C

Select item 148751272715.

rs1487512727 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 18:63646165 (GRCh38)
18:61313399 (GRCh37)
Canonical SPDI:: NC_000018.10:63646164:T:A,NC_000018.10:63646164:T:G
Gene:: SERPINB4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000018.10:g.63646165T>A, NC_000018.10:g.63646165T>G, NC_000018.9:g.61313399T>A, NC_000018.9:g.61313399T>G, NG_053001.1:g.3155A>T, NG_053001.1:g.3155A>C

Select item 148698887916.

rs1486988879 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 18:63638142 (GRCh38)
18:61305376 (GRCh37)
Canonical SPDI:: NC_000018.10:63638141:G:C,NC_000018.10:63638141:G:T
Gene:: SERPINB4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000036/5 (GnomAD)
T=0.000042/11 (TOPMED)
HGVS:: NC_000018.10:g.63638142G>C, NC_000018.10:g.63638142G>T, NC_000018.9:g.61305376G>C, NC_000018.9:g.61305376G>T, NG_053001.1:g.11178C>G, NG_053001.1:g.11178C>A

Select item 148685271817.

rs1486852718 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 18:63642781 (GRCh38)
18:61310015 (GRCh37)
Canonical SPDI:: NC_000018.10:63642780:G:A,NC_000018.10:63642780:G:C,NC_000018.10:63642780:G:T
Gene:: SERPINB4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.63642781G>A, NC_000018.10:g.63642781G>C, NC_000018.10:g.63642781G>T, NC_000018.9:g.61310015G>A, NC_000018.9:g.61310015G>C, NC_000018.9:g.61310015G>T, NG_053001.1:g.6539C>T, NG_053001.1:g.6539C>G, NG_053001.1:g.6539C>A

Select item 148675772518.

rs1486757725 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:63643151 (GRCh38)
18:61310385 (GRCh37)
Canonical SPDI:: NC_000018.10:63643150:T:C
Gene:: SERPINB4 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000018.10:g.63643151T>C, NC_000018.9:g.61310385T>C, NG_053001.1:g.6169A>G

Select item 148662307719.

rs1486623077 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:63643028 (GRCh38)
18:61310262 (GRCh37)
Canonical SPDI:: NC_000018.10:63643027:A:G
Gene:: SERPINB4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.63643028A>G, NC_000018.9:g.61310262A>G, NG_053001.1:g.6292T>C

Select item 148623492020.

rs1486234920 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 18:63641990 (GRCh38)
18:61309224 (GRCh37)
Canonical SPDI:: NC_000018.10:63641989:T:A
Gene:: SERPINB4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000036/5 (GnomAD)
HGVS:: NC_000018.10:g.63641990T>A, NC_000018.9:g.61309224T>A, NG_053001.1:g.7330A>T

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