SNP Links for Gene (Select 94115) - SNP

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Select item 14905258931.

rs1490525893 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:49049125 (GRCh38)
19:49552382 (GRCh37)
Canonical SPDI:: NC_000019.10:49049124:T:C
Gene:: CGB8 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.49049125T>C, NC_000019.9:g.49552382T>C

Select item 14904577182.

rs1490457718 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:49049119 (GRCh38)
19:49552376 (GRCh37)
Canonical SPDI:: NC_000019.10:49049118:C:G,NC_000019.10:49049118:C:T
Gene:: CGB8 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.49049119C>G, NC_000019.10:g.49049119C>T, NC_000019.9:g.49552376C>G, NC_000019.9:g.49552376C>T

Select item 14888911373.

rs1488891137 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:49050017 (GRCh38)
19:49553274 (GRCh37)
Canonical SPDI:: NC_000019.10:49050016:G:C
Gene:: CGB8 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_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_000019.10:g.49050017G>C, NC_000019.9:g.49553274G>C

Select item 14884375144.

rs1488437514 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:49048308 (GRCh38)
19:49551565 (GRCh37)
Canonical SPDI:: NC_000019.10:49048307:G:A,NC_000019.10:49048307:G:T
Gene:: CGB8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
T=0.000018/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.49048308G>A, NC_000019.10:g.49048308G>T, NC_000019.9:g.49551565G>A, NC_000019.9:g.49551565G>T, NM_033183.3:c.80C>T, NM_033183.3:c.80C>A, NM_033183.2:c.80C>T, NM_033183.2:c.80C>A, NP_149439.1:p.Pro27Leu, NP_149439.1:p.Pro27Gln

Select item 14882942715.

rs1488294271 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:49050066 (GRCh38)
19:49553323 (GRCh37)
Canonical SPDI:: NC_000019.10:49050065:C:G
Gene:: CGB8 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.49050066C>G, NC_000019.9:g.49553323C>G, NG_030285.2:g.908G>C

Select item 14882482656.

rs1488248265 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 19:49049562 (GRCh38)
19:49552819 (GRCh37)
Canonical SPDI:: NC_000019.10:49049561:A:C,NC_000019.10:49049561:A:G
Gene:: CGB8 (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)
HGVS:: NC_000019.10:g.49049562A>C, NC_000019.10:g.49049562A>G, NC_000019.9:g.49552819A>C, NC_000019.9:g.49552819A>G

Select item 14867762057.

rs1486776205 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:49048383 (GRCh38)
19:49551640 (GRCh37)
Canonical SPDI:: NC_000019.10:49048382:G:A
Gene:: CGB8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.49048383G>A, NC_000019.9:g.49551640G>A

Select item 14866200198.

rs1486620019 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:49048747 (GRCh38)
19:49552004 (GRCh37)
Canonical SPDI:: NC_000019.10:49048746:G:A
Gene:: CGB8 (Varview)
Functional Consequence:: 5_prime_UTR_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_000019.10:g.49048747G>A, NC_000019.9:g.49552004G>A, NM_033183.3:c.-8C>T, NM_033183.2:c.-8C>T

Select item 14864969139.

rs1486496913 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:49049672 (GRCh38)
19:49552929 (GRCh37)
Canonical SPDI:: NC_000019.10:49049671:C:G
Gene:: CGB8 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000019.10:g.49049672C>G, NC_000019.9:g.49552929C>G

Select item 148604758010.

rs1486047580 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:49050969 (GRCh38)
19:49554226 (GRCh37)
Canonical SPDI:: NC_000019.10:49050968:G:A,NC_000019.10:49050968:G:C
Gene:: CGB8 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000019.10:g.49050969G>A, NC_000019.10:g.49050969G>C, NC_000019.9:g.49554226G>A, NC_000019.9:g.49554226G>C, NG_030285.2:g.5C>T, NG_030285.2:g.5C>G

Select item 148579053811.

rs1485790538 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:49047873 (GRCh38)
19:49551130 (GRCh37)
Canonical SPDI:: NC_000019.10:49047872:G:A,NC_000019.10:49047872:G:T
Gene:: CGB8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00004/1 (TOMMO)
A=0.00006/3 (GnomAD_exomes)
A=0.00016/1 (1000Genomes)
HGVS:: NC_000019.10:g.49047873G>A, NC_000019.10:g.49047873G>T, NC_000019.9:g.49551130G>A, NC_000019.9:g.49551130G>T, NM_033183.3:c.280C>T, NM_033183.3:c.280C>A, NM_033183.2:c.280C>T, NM_033183.2:c.280C>A, NP_149439.1:p.Arg94Cys, NP_149439.1:p.Arg94Ser

Select item 148524361012.

rs1485243610 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:49049284 (GRCh38)
19:49552541 (GRCh37)
Canonical SPDI:: NC_000019.10:49049283:C:A
Gene:: CGB8 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000253/3 (ALFA)
A=0.000065/9 (GnomAD)
HGVS:: NC_000019.10:g.49049284C>A, NC_000019.9:g.49552541C>A

Select item 148518998913.

rs1485189989 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:49047201 (GRCh38)
19:49550458 (GRCh37)
Canonical SPDI:: NC_000019.10:49047200:T:A
Gene:: CGB8 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.49047201T>A, NC_000019.9:g.49550458T>A

Select item 148482072014.

rs1484820720 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:49050723 (GRCh38)
19:49553980 (GRCh37)
Canonical SPDI:: NC_000019.10:49050722:G:A
Gene:: CGB8 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000019.10:g.49050723G>A, NC_000019.9:g.49553980G>A, NG_030285.2:g.251C>T

Select item 148468040315.

rs1484680403 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:49048188 (GRCh38)
19:49551445 (GRCh37)
Canonical SPDI:: NC_000019.10:49048187:G:A
Gene:: CGB8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00025/3 (ALFA)
A=0.00025/4 (TOMMO)
HGVS:: NC_000019.10:g.49048188G>A, NC_000019.9:g.49551445G>A

Select item 148465583216.

rs1484655832 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:49049953 (GRCh38)
19:49553210 (GRCh37)
Canonical SPDI:: NC_000019.10:49049952:C:A
Gene:: CGB8 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000019.10:g.49049953C>A, NC_000019.9:g.49553210C>A

Select item 148459500417.

rs1484595004 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:49047299 (GRCh38)
19:49550556 (GRCh37)
Canonical SPDI:: NC_000019.10:49047298:A:C
Gene:: CGB8 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000019.10:g.49047299A>C, NC_000019.9:g.49550556A>C

Select item 148456709218.

rs1484567092 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:49047591 (GRCh38)
19:49550848 (GRCh37)
Canonical SPDI:: NC_000019.10:49047590:C:T
Gene:: CGB8 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000019.10:g.49047591C>T, NC_000019.9:g.49550848C>T

Select item 148430209019.

rs1484302090 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 19:49048568 (GRCh38)
19:49551825 (GRCh37)
Canonical SPDI:: NC_000019.10:49048566:AGA:A
Gene:: CGB8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.49048568_49048569del, NC_000019.9:g.49551825_49551826del

Select item 148331792120.

rs1483317921 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:49048749 (GRCh38)
19:49552006 (GRCh37)
Canonical SPDI:: NC_000019.10:49048748:G:A,NC_000019.10:49048748:G:C
Gene:: CGB8 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.49048749G>A, NC_000019.10:g.49048749G>C, NC_000019.9:g.49552006G>A, NC_000019.9:g.49552006G>C, NM_033183.3:c.-10C>T, NM_033183.3:c.-10C>G, NM_033183.2:c.-10C>T, NM_033183.2:c.-10C>G

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