SNP Links for Gene (Select 105376997) - SNP

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Select item 14914058881.

rs1491405888 [Homo sapiens]

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

Select item 14912648792.

rs1491264879 has merged into rs11401651 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA [Show Flanks]
Chromosome:: 3:25383940 (GRCh38)
3:25425431 (GRCh37)
Canonical SPDI:: NC_000003.12:25383930:AAAAAAAAAAAAAA:AAAAAAAAA,NC_000003.12:25383930:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:25383930:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:25383930:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:25383930:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:25383930:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:25383930:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:25383930:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
Gene:: RARB (Varview), RARB-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
A=0.490831/1820 (TWINSUK)
-=0.498962/1923 (ALSPAC)
A=0.499002/2499 (1000Genomes)
HGVS:: NC_000003.12:g.25383940_25383944del, NC_000003.12:g.25383942_25383944del, NC_000003.12:g.25383943_25383944del, NC_000003.12:g.25383944del, NC_000003.12:g.25383944dup, NC_000003.12:g.25383943_25383944dup, NC_000003.12:g.25383942_25383944dup, NC_000003.12:g.25383941_25383944dup, NC_000003.11:g.25425431_25425435del, NC_000003.11:g.25425433_25425435del, NC_000003.11:g.25425434_25425435del, NC_000003.11:g.25425435del, NC_000003.11:g.25425435dup, NC_000003.11:g.25425434_25425435dup, NC_000003.11:g.25425433_25425435dup, NC_000003.11:g.25425432_25425435dup, NG_029013.3:g.559618_559622del, NG_029013.3:g.559620_559622del, NG_029013.3:g.559621_559622del, NG_029013.3:g.559622del, NG_029013.3:g.559622dup, NG_029013.3:g.559621_559622dup, NG_029013.3:g.559620_559622dup, NG_029013.3:g.559619_559622dup

Select item 14889433493.

rs1488943349 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:25383648 (GRCh38)
3:25425139 (GRCh37)
Canonical SPDI:: NC_000003.12:25383647:C:T
Gene:: RARB (Varview), RARB-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.25383648C>T, NC_000003.11:g.25425139C>T, NG_029013.3:g.559326C>T

Select item 14888912644.

rs1488891264 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 3:25383124 (GRCh38)
3:25424615 (GRCh37)
Canonical SPDI:: NC_000003.12:25383123:C:G,NC_000003.12:25383123:C:T
Gene:: RARB (Varview), RARB-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000003.12:g.25383124C>G, NC_000003.12:g.25383124C>T, NC_000003.11:g.25424615C>G, NC_000003.11:g.25424615C>T, NG_029013.3:g.558802C>G, NG_029013.3:g.558802C>T, NR_134933.1:n.538G>C, NR_134933.1:n.538G>A

Select item 14884594785.

rs1488459478 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:25382832 (GRCh38)
3:25424323 (GRCh37)
Canonical SPDI:: NC_000003.12:25382831:T:G
Gene:: RARB (Varview), RARB-AS1 (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000003.12:g.25382832T>G, NC_000003.11:g.25424323T>G, NG_029013.3:g.558510T>G

Select item 14882996906.

rs1488299690 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 3:25383864 (GRCh38)
3:25425355 (GRCh37)
Canonical SPDI:: NC_000003.12:25383862:GAG:G
Gene:: RARB (Varview), RARB-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.25383864_25383865del, NC_000003.11:g.25425355_25425356del, NG_029013.3:g.559542_559543del

Select item 14882958527.

rs1488295852 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTCTCTCC [Show Flanks]
Chromosome:: 3:25384313 (GRCh38)
3:25425805 (GRCh37)
Canonical SPDI:: NC_000003.12:25384313:CTCCCTCTCTCC:CTCCCTCTCTCCCTCTCTCC
Gene:: RARB (Varview), RARB-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CTCCCTCTCTCCCTCTCTCC=0./0 (ALFA)
CTCCCTCT=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.25384318_25384325dup, NC_000003.11:g.25425809_25425816dup, NG_029013.3:g.559996_560003dup

Select item 14877760498.

rs1487776049 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:25385382 (GRCh38)
3:25426873 (GRCh37)
Canonical SPDI:: NC_000003.12:25385381:A:C
Gene:: RARB (Varview), RARB-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000026/7 (TOPMED)
HGVS:: NC_000003.12:g.25385382A>C, NC_000003.11:g.25426873A>C, NG_029013.3:g.561060A>C

Select item 14876640509.

rs1487664050 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:25384548 (GRCh38)
3:25426039 (GRCh37)
Canonical SPDI:: NC_000003.12:25384547:C:T
Gene:: RARB (Varview), RARB-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
HGVS:: NC_000003.12:g.25384548C>T, NC_000003.11:g.25426039C>T, NG_029013.3:g.560226C>T

Select item 148743128110.

rs1487431281 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:25384933 (GRCh38)
3:25426424 (GRCh37)
Canonical SPDI:: NC_000003.12:25384932:G:T
Gene:: RARB (Varview), RARB-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000003.12:g.25384933G>T, NC_000003.11:g.25426424G>T, NG_029013.3:g.560611G>T

Select item 148679407611.

rs1486794076 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 3:25385718 (GRCh38)
3:25427209 (GRCh37)
Canonical SPDI:: NC_000003.12:25385717:T:A
Gene:: RARB (Varview), RARB-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.25385718T>A, NC_000003.11:g.25427209T>A, NG_029013.3:g.561396T>A

Select item 148669308012.

rs1486693080 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 3:25386773 (GRCh38)
3:25428264 (GRCh37)
Canonical SPDI:: NC_000003.12:25386772:A:T
Gene:: RARB (Varview), RARB-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000003.12:g.25386773A>T, NC_000003.11:g.25428264A>T, NG_029013.3:g.562451A>T

Select item 148668506413.

rs1486685064 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 3:25382686 (GRCh38)
3:25424177 (GRCh37)
Canonical SPDI:: NC_000003.12:25382685:T:A
Gene:: RARB (Varview), RARB-AS1 (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.25382686T>A, NC_000003.11:g.25424177T>A, NG_029013.3:g.558364T>A

Select item 148571269714.

rs1485712697 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:25385799 (GRCh38)
3:25427290 (GRCh37)
Canonical SPDI:: NC_000003.12:25385798:T:C
Gene:: RARB (Varview), RARB-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.25385799T>C, NC_000003.11:g.25427290T>C, NG_029013.3:g.561477T>C

Select item 148541943315.

rs1485419433 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 3:25386103 (GRCh38)
3:25427594 (GRCh37)
Canonical SPDI:: NC_000003.12:25386102:G:A,NC_000003.12:25386102:G:T
Gene:: RARB (Varview), RARB-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.25386103G>A, NC_000003.12:g.25386103G>T, NC_000003.11:g.25427594G>A, NC_000003.11:g.25427594G>T, NG_029013.3:g.561781G>A, NG_029013.3:g.561781G>T

Select item 148478116616.

rs1484781166 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:25383305 (GRCh38)
3:25424796 (GRCh37)
Canonical SPDI:: NC_000003.12:25383304:C:T
Gene:: RARB (Varview), RARB-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.0002/1 (ALFA)
T=0.0002/1 (Estonian)
HGVS:: NC_000003.12:g.25383305C>T, NC_000003.11:g.25424796C>T, NG_029013.3:g.558983C>T, NR_134933.1:n.357G>A

Select item 148473069417.

rs1484730694 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:25385008 (GRCh38)
3:25426499 (GRCh37)
Canonical SPDI:: NC_000003.12:25385007:A:C
Gene:: RARB (Varview), RARB-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_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_000003.12:g.25385008A>C, NC_000003.11:g.25426499A>C, NG_029013.3:g.560686A>C

Select item 148459056518.

rs1484590565 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:25382714 (GRCh38)
3:25424205 (GRCh37)
Canonical SPDI:: NC_000003.12:25382713:C:T
Gene:: RARB (Varview), RARB-AS1 (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.25382714C>T, NC_000003.11:g.25424205C>T, NG_029013.3:g.558392C>T

Select item 148456411319.

rs1484564113 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:25386881 (GRCh38)
3:25428372 (GRCh37)
Canonical SPDI:: NC_000003.12:25386880:C:T
Gene:: RARB (Varview), RARB-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (GnomAD)
T=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.25386881C>T, NC_000003.11:g.25428372C>T, NG_029013.3:g.562559C>T

Select item 148437129420.

rs1484371294 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:25383085 (GRCh38)
3:25424576 (GRCh37)
Canonical SPDI:: NC_000003.12:25383084:T:C
Gene:: RARB (Varview), RARB-AS1 (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000003.12:g.25383085T>C, NC_000003.11:g.25424576T>C, NG_029013.3:g.558763T>C

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