SNP Links for Gene (Select 27113) - SNP

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Select item 14915419161.

rs1491541916 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 19:47227327 (GRCh38)
19:47730585 (GRCh37)
Canonical SPDI:: NC_000019.10:47227327:A:AA
Gene:: BBC3 (Varview), MIR3191 (Varview), MIR3190 (Varview)
Functional Consequence:: 2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.47227328dup, NC_000019.9:g.47730585dup, NG_031991.2:g.10439dup

Select item 14914762942.

rs1491476294 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 19:47227312 (GRCh38)
19:47730570 (GRCh37)
Canonical SPDI:: NC_000019.10:47227312::A
Gene:: BBC3 (Varview), MIR3191 (Varview), MIR3190 (Varview)
Functional Consequence:: 2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.04262/26 (GnomAD)
HGVS:: NC_000019.10:g.47227312_47227313insA, NC_000019.9:g.47730569_47730570insA, NG_031991.2:g.10454_10455insT

Select item 14914437693.

rs1491443769 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>- [Show Flanks]
Chromosome:: 19:47227328 (GRCh38)
19:47730585 (GRCh37)
Canonical SPDI:: NC_000019.10:47227326:CAC:C
Gene:: BBC3 (Varview), MIR3191 (Varview), MIR3190 (Varview)
Functional Consequence:: 2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.00051/6 (ALFA)
HGVS:: NC_000019.10:g.47227328_47227329del, NC_000019.9:g.47730585_47730586del, NG_031991.2:g.10439_10440del

Select item 14909714544.

rs1490971454 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:47228215 (GRCh38)
19:47731472 (GRCh37)
Canonical SPDI:: NC_000019.10:47228214:C:A
Gene:: BBC3 (Varview), MIR3191 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant,intron_variant
HGVS:: NC_000019.10:g.47228215C>A, NC_000019.9:g.47731472C>A, NG_031991.2:g.9552G>T, NM_014417.5:c.217G>T, NM_014417.4:c.217G>T, NM_001127240.3:c.320G>T, NM_001127240.2:c.320G>T, XM_006723141.4:c.217G>T, XM_006723141.3:c.217G>T, XM_006723141.2:c.217G>T, XM_006723141.1:c.217G>T, XM_011526722.3:c.265G>T, XM_011526722.2:c.265G>T, XM_011526722.1:c.265G>T, XM_047438606.1:c.217G>T, NP_055232.1:p.Gly73Trp, NP_001120712.1:p.Gly107Val, XP_006723204.1:p.Gly73Trp, XP_011525024.1:p.Gly89Trp, XP_047294562.1:p.Gly73Trp

Select item 14907140135.

rs1490714013 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:47220658 (GRCh38)
19:47723915 (GRCh37)
Canonical SPDI:: NC_000019.10:47220657:G:A
Gene:: BBC3 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0./0 (KOREAN)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000318/5 (TOMMO)
HGVS:: NC_000019.10:g.47220658G>A, NC_000019.9:g.47723915G>A, NG_031991.2:g.17109C>T

Select item 14907095776.

rs1490709577 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:47223154 (GRCh38)
19:47726411 (GRCh37)
Canonical SPDI:: NC_000019.10:47223153:C:T
Gene:: BBC3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.47223154C>T, NC_000019.9:g.47726411C>T, NG_031991.2:g.14613G>A

Select item 14906240017.

rs1490624001 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:47234391 (GRCh38)
19:47737648 (GRCh37)
Canonical SPDI:: NC_000019.10:47234390:T:C
Gene:: BBC3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000019/5 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000019.10:g.47234391T>C, NC_000019.9:g.47737648T>C, NG_031991.2:g.3376A>G

Select item 14905749018.

rs1490574901 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:47228750 (GRCh38)
19:47732007 (GRCh37)
Canonical SPDI:: NC_000019.10:47228749:A:C
Gene:: BBC3 (Varview), MIR3191 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_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_000019.10:g.47228750A>C, NC_000019.9:g.47732007A>C, NG_031991.2:g.9017T>G

Select item 14905727719.

rs1490572771 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:47222854 (GRCh38)
19:47726111 (GRCh37)
Canonical SPDI:: NC_000019.10:47222853:A:G
Gene:: BBC3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000023/6 (TOPMED)
A=0.5/2 (SGDP_PRJ)
HGVS:: NC_000019.10:g.47222854A>G, NC_000019.9:g.47726111A>G, NG_031991.2:g.14913T>C

Select item 149054796710.

rs1490547967 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:47223485 (GRCh38)
19:47726742 (GRCh37)
Canonical SPDI:: NC_000019.10:47223484:T:G
Gene:: BBC3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.47223485T>G, NC_000019.9:g.47726742T>G, NG_031991.2:g.14282A>C

Select item 149028940311.

rs1490289403 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACGT>- [Show Flanks]
Chromosome:: 19:47232894 (GRCh38)
19:47736151 (GRCh37)
Canonical SPDI:: NC_000019.10:47232892:TCACGT:T
Gene:: BBC3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.47232894_47232898del, NC_000019.9:g.47736151_47736155del, NG_031991.2:g.4870_4874del

Select item 149027396412.

rs1490273964 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:47230784 (GRCh38)
19:47734041 (GRCh37)
Canonical SPDI:: NC_000019.10:47230783:G:A
Gene:: BBC3 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.47230784G>A, NC_000019.9:g.47734041G>A, NG_031991.2:g.6983C>T

Select item 148998817213.

rs1489988172 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:47221721 (GRCh38)
19:47724978 (GRCh37)
Canonical SPDI:: NC_000019.10:47221720:C:A,NC_000019.10:47221720:C:T
Gene:: BBC3 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.00006/1 (TOMMO)
HGVS:: NC_000019.10:g.47221721C>A, NC_000019.10:g.47221721C>T, NC_000019.9:g.47724978C>A, NC_000019.9:g.47724978C>T, NG_031991.2:g.16046G>T, NG_031991.2:g.16046G>A, NM_014417.5:c.*81G>T, NM_014417.5:c.*81G>A, NM_014417.4:c.*81G>T, NM_014417.4:c.*81G>A, NM_001127240.3:c.766G>T, NM_001127240.3:c.766G>A, NM_001127240.2:c.766G>T, NM_001127240.2:c.766G>A, NM_001127241.3:c.*81G>T, NM_001127241.3:c.*81G>A, NM_001127241.2:c.*81G>T, NM_001127241.2:c.*81G>A, NM_001127242.3:c.286G>T, NM_001127242.3:c.286G>A, NM_001127242.2:c.286G>T, NM_001127242.2:c.286G>A, XM_006723141.4:c.*81G>T, XM_006723141.4:c.*81G>A, XM_006723141.3:c.*81G>T, XM_006723141.3:c.*81G>A, XM_006723141.2:c.*81G>T, XM_006723141.2:c.*81G>A, XM_006723141.1:c.*81G>T, XM_006723141.1:c.*81G>A, XM_011526722.3:c.*81G>T, XM_011526722.3:c.*81G>A, XM_011526722.2:c.*81G>T, XM_011526722.2:c.*81G>A, XM_011526722.1:c.*81G>T, XM_011526722.1:c.*81G>A, XM_047438606.1:c.*81G>T, XM_047438606.1:c.*81G>A, NP_001120712.1:p.Asp256Tyr, NP_001120712.1:p.Asp256Asn, NP_001120714.1:p.Asp96Tyr, NP_001120714.1:p.Asp96Asn

Select item 148975818714.

rs1489758187 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:47223881 (GRCh38)
19:47727138 (GRCh37)
Canonical SPDI:: NC_000019.10:47223880:C:T
Gene:: BBC3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000026/7 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000019.10:g.47223881C>T, NC_000019.9:g.47727138C>T, NG_031991.2:g.13886G>A

Select item 148966761615.

rs1489667616 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:47223854 (GRCh38)
19:47727111 (GRCh37)
Canonical SPDI:: NC_000019.10:47223853:C:A
Gene:: BBC3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.47223854C>A, NC_000019.9:g.47727111C>A, NG_031991.2:g.13913G>T

Select item 148922238816.

rs1489222388 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:47224809 (GRCh38)
19:47728066 (GRCh37)
Canonical SPDI:: NC_000019.10:47224808:G:A
Gene:: BBC3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000022/3 (GnomAD)
A=0.000072/19 (TOPMED)
HGVS:: NC_000019.10:g.47224809G>A, NC_000019.9:g.47728066G>A, NG_031991.2:g.12958C>T

Select item 148902991117.

rs1489029911 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:47230621 (GRCh38)
19:47733878 (GRCh37)
Canonical SPDI:: NC_000019.10:47230620:C:T
Gene:: BBC3 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.47230621C>T, NC_000019.9:g.47733878C>T, NG_031991.2:g.7146G>A

Select item 148901662518.

rs1489016625 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CGGC [Show Flanks]
Chromosome:: 19:47227568 (GRCh38)
19:47730826 (GRCh37)
Canonical SPDI:: NC_000019.10:47227568:GCCGGC:GCCGGCCGGC
Gene:: BBC3 (Varview), MIR3191 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCCGGCCGGC=0./0 (ALFA)
GCCG=0.000008/2 (TOPMED)
GCCG=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.47227571_47227574dup, NC_000019.9:g.47730828_47730831dup, NG_031991.2:g.10195_10198dup

Select item 148888306919.

rs1488883069 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:47233455 (GRCh38)
19:47736712 (GRCh37)
Canonical SPDI:: NC_000019.10:47233454:G:A
Gene:: BBC3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.47233455G>A, NC_000019.9:g.47736712G>A, NG_031991.2:g.4312C>T

Select item 148885422220.

rs1488854222 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:47230754 (GRCh38)
19:47734011 (GRCh37)
Canonical SPDI:: NC_000019.10:47230753:G:A
Gene:: BBC3 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.47230754G>A, NC_000019.9:g.47734011G>A, NG_031991.2:g.7013C>T

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