SNP Links for Gene (Select 390212) - SNP

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Items: 1 to 20 of 1139

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Select item 14912507391.

rs1491250739 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 11:67452276 (GRCh38)
11:67219747 (GRCh37)
Canonical SPDI:: NC_000011.10:67452275:CA:
Gene:: CABP4 (Varview), GPR152 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: -=0.000008/2 (GnomAD_exomes)
-=0.000009/1 (ExAC)
HGVS:: NC_000011.10:g.67452276_67452277del, NC_000011.9:g.67219747_67219748del, NG_021211.1:g.1930_1931del, NM_206997.1:c.448_449del, NP_996880.1:p.Trp150fs

Select item 14895148522.

rs1489514852 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:67452731 (GRCh38)
11:67220202 (GRCh37)
Canonical SPDI:: NC_000011.10:67452730:T:C
Gene:: CABP4 (Varview), GPR152 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,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_000011.10:g.67452731T>C, NC_000011.9:g.67220202T>C, NG_021211.1:g.2385T>C

Select item 14879732053.

rs1487973205 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:67451561 (GRCh38)
11:67219032 (GRCh37)
Canonical SPDI:: NC_000011.10:67451560:G:A
Gene:: CABP4 (Varview), GPR152 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000016/4 (GnomAD_exomes)
A=0.000017/2 (ExAC)
A=0.000021/3 (GnomAD)
HGVS:: NC_000011.10:g.67451561G>A, NC_000011.9:g.67219032G>A, NG_021211.1:g.1215G>A, NM_206997.1:c.1164C>T

Select item 14874940594.

rs1487494059 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:67451707 (GRCh38)
11:67219178 (GRCh37)
Canonical SPDI:: NC_000011.10:67451706:T:C
Gene:: CABP4 (Varview), GPR152 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.67451707T>C, NC_000011.9:g.67219178T>C, NG_021211.1:g.1361T>C, NM_206997.1:c.1018A>G, NP_996880.1:p.Thr340Ala

Select item 14872390865.

rs1487239086 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:67453472 (GRCh38)
11:67220943 (GRCh37)
Canonical SPDI:: NC_000011.10:67453471:C:T
Gene:: CABP4 (Varview), GPR152 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000142/2 (ALFA)
T=0.000021/3 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000011.10:g.67453472C>T, NC_000011.9:g.67220943C>T, NG_021211.1:g.3126C>T, XM_024448615.2:c.-1952C>T, XM_024448615.1:c.-1952C>T

Select item 14872169576.

rs1487216957 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:67452324 (GRCh38)
11:67219795 (GRCh37)
Canonical SPDI:: NC_000011.10:67452323:A:G
Gene:: CABP4 (Varview), GPR152 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,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_000011.10:g.67452324A>G, NC_000011.9:g.67219795A>G, NG_021211.1:g.1978A>G, NM_206997.1:c.401T>C, NP_996880.1:p.Leu134Pro

Select item 14864109997.

rs1486410999 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:67451723 (GRCh38)
11:67219194 (GRCh37)
Canonical SPDI:: NC_000011.10:67451722:T:G
Gene:: CABP4 (Varview), GPR152 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.67451723T>G, NC_000011.9:g.67219194T>G, NG_021211.1:g.1377T>G, NM_206997.1:c.1002A>C

Select item 14860225128.

rs1486022512 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 11:67453286 (GRCh38)
11:67220757 (GRCh37)
Canonical SPDI:: NC_000011.10:67453285:C:A,NC_000011.10:67453285:C:T
Gene:: CABP4 (Varview), GPR152 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_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_000011.10:g.67453286C>A, NC_000011.10:g.67453286C>T, NC_000011.9:g.67220757C>A, NC_000011.9:g.67220757C>T, NG_021211.1:g.2940C>A, NG_021211.1:g.2940C>T, XM_024448615.2:c.-2138C>A, XM_024448615.2:c.-2138C>T, XM_024448615.1:c.-2138C>A, XM_024448615.1:c.-2138C>T

Select item 14859015509.

rs1485901550 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:67453934 (GRCh38)
11:67221405 (GRCh37)
Canonical SPDI:: NC_000011.10:67453933:C:T
Gene:: CABP4 (Varview), GPR152 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,5_prime_UTR_variant,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_000011.10:g.67453934C>T, NC_000011.9:g.67221405C>T, NG_021211.1:g.3588C>T, XM_024448615.2:c.-1490C>T, XM_024448615.1:c.-1490C>T

Select item 148518715010.

rs1485187150 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:67454043 (GRCh38)
11:67221514 (GRCh37)
Canonical SPDI:: NC_000011.10:67454042:C:G
Gene:: CABP4 (Varview), GPR152 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,5_prime_UTR_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_000011.10:g.67454043C>G, NC_000011.9:g.67221514C>G, NG_021211.1:g.3697C>G, XM_024448615.2:c.-1381C>G, XM_024448615.1:c.-1381C>G

Select item 148492023911.

rs1484920239 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:67453501 (GRCh38)
11:67220972 (GRCh37)
Canonical SPDI:: NC_000011.10:67453500:C:A
Gene:: CABP4 (Varview), GPR152 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000011.10:g.67453501C>A, NC_000011.9:g.67220972C>A, NG_021211.1:g.3155C>A, XM_024448615.2:c.-1923C>A, XM_024448615.1:c.-1923C>A

Select item 148431077612.

rs1484310776 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 11:67452256 (GRCh38)
11:67219727 (GRCh37)
Canonical SPDI:: NC_000011.10:67452255:C:A,NC_000011.10:67452255:C:G,NC_000011.10:67452255:C:T
Gene:: CABP4 (Varview), GPR152 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.67452256C>A, NC_000011.10:g.67452256C>G, NC_000011.10:g.67452256C>T, NC_000011.9:g.67219727C>A, NC_000011.9:g.67219727C>G, NC_000011.9:g.67219727C>T, NG_021211.1:g.1910C>A, NG_021211.1:g.1910C>G, NG_021211.1:g.1910C>T, NM_206997.1:c.469G>T, NM_206997.1:c.469G>C, NM_206997.1:c.469G>A, NP_996880.1:p.Val157Leu, NP_996880.1:p.Val157Leu, NP_996880.1:p.Val157Met

Select item 148045702013.

rs1480457020 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:67452126 (GRCh38)
11:67219597 (GRCh37)
Canonical SPDI:: NC_000011.10:67452125:C:T
Gene:: CABP4 (Varview), GPR152 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0.000065/2 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.67452126C>T, NC_000011.9:g.67219597C>T, NG_021211.1:g.1780C>T, NM_206997.1:c.599G>A, NP_996880.1:p.Gly200Glu

Select item 147859338414.

rs1478593384 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:67452893 (GRCh38)
11:67220364 (GRCh37)
Canonical SPDI:: NC_000011.10:67452892:G:C
Gene:: CABP4 (Varview), GPR152 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.67452893G>C, NC_000011.9:g.67220364G>C, NG_021211.1:g.2547G>C, XM_024448615.2:c.-2531G>C, XM_024448615.1:c.-2531G>C

Select item 147825646115.

rs1478256461 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:67453160 (GRCh38)
11:67220631 (GRCh37)
Canonical SPDI:: NC_000011.10:67453159:A:G
Gene:: CABP4 (Varview), GPR152 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.67453160A>G, NC_000011.9:g.67220631A>G, NG_021211.1:g.2814A>G, XM_024448615.2:c.-2264A>G, XM_024448615.1:c.-2264A>G

Select item 147794220416.

rs1477942204 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:67452134 (GRCh38)
11:67219605 (GRCh37)
Canonical SPDI:: NC_000011.10:67452133:C:G
Gene:: CABP4 (Varview), GPR152 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (GnomAD)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.67452134C>G, NC_000011.9:g.67219605C>G, NG_021211.1:g.1788C>G, NM_206997.1:c.591G>C, NP_996880.1:p.Glu197Asp

Select item 147753820317.

rs1477538203 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:67451636 (GRCh38)
11:67219107 (GRCh37)
Canonical SPDI:: NC_000011.10:67451635:T:C
Gene:: CABP4 (Varview), GPR152 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant,synonymous_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_000011.10:g.67451636T>C, NC_000011.9:g.67219107T>C, NG_021211.1:g.1290T>C, NM_206997.1:c.1089A>G

Select item 147753085118.

rs1477530851 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AGCCAGAGTAGAC [Show Flanks]
Chromosome:: 11:67451913 (GRCh38)
11:67219385 (GRCh37)
Canonical SPDI:: NC_000011.10:67451913:AGCCAGAGTAGAC:AGCCAGAGTAGACAGCCAGAGTAGAC
Gene:: CABP4 (Varview), GPR152 (Varview)
Functional Consequence:: frameshift_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGCCAGAGTAGACAGCCAGAGTAGAC=0.000084/1 (ALFA)
AGCCAGAGTAGAC=0.000004/1 (GnomAD_exomes)
AGCCAGAGTAGAC=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.67451914_67451926dup, NC_000011.9:g.67219385_67219397dup, NG_021211.1:g.1568_1580dup, NM_206997.1:c.799_811dup, NP_996880.1:p.Tyr271fs

Select item 147747004619.

rs1477470046 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:67452115 (GRCh38)
11:67219586 (GRCh37)
Canonical SPDI:: NC_000011.10:67452114:G:A,NC_000011.10:67452114:G:T
Gene:: CABP4 (Varview), GPR152 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.67452115G>A, NC_000011.10:g.67452115G>T, NC_000011.9:g.67219586G>A, NC_000011.9:g.67219586G>T, NG_021211.1:g.1769G>A, NG_021211.1:g.1769G>T, NM_206997.1:c.610C>T, NM_206997.1:c.610C>A, NP_996880.1:p.Pro204Ser, NP_996880.1:p.Pro204Thr

Select item 147705893520.

rs1477058935 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:67451626 (GRCh38)
11:67219097 (GRCh37)
Canonical SPDI:: NC_000011.10:67451625:G:A
Gene:: CABP4 (Varview), GPR152 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.67451626G>A, NC_000011.9:g.67219097G>A, NG_021211.1:g.1280G>A, NM_206997.1:c.1099C>T, NP_996880.1:p.Arg367Ter

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