SNP Links for Gene (Select 6699) - SNP

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Select item 14910881791.

rs1491088179 has merged into rs35635306 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT [Show Flanks]
Chromosome:: 1:153031333 (GRCh38)
1:153003809 (GRCh37)
Canonical SPDI:: NC_000001.11:153031327:TTTTTTT:TTTTT,NC_000001.11:153031327:TTTTTTT:TTTTTT,NC_000001.11:153031327:TTTTTTT:TTTTTTTT
Gene:: SPRR1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
T=0.372204/6238 (TOMMO)
-=0.375/15 (GENOME_DK)
-=0.418333/251 (NorthernSweden)
T=0.44822/2229 (1000Genomes)
T=0.455465/120557 (TOPMED)
T=0.462926/462 (GoNL)
T=0.489063/2191 (Estonian)
T=0.4911/1821 (TWINSUK)
T=0.496627/1914 (ALSPAC)
HGVS:: NC_000001.11:g.153031333_153031334del, NC_000001.11:g.153031334del, NC_000001.11:g.153031334dup, NC_000001.10:g.153003809_153003810del, NC_000001.10:g.153003810del, NC_000001.10:g.153003810dup

Select item 14897315172.

rs1489731517 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:153033226 (GRCh38)
1:153005702 (GRCh37)
Canonical SPDI:: NC_000001.11:153033225:C:G
Gene:: SPRR1B (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_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_000001.11:g.153033226C>G, NC_000001.10:g.153005702C>G

Select item 14877925743.

rs1487792574 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:153032643 (GRCh38)
1:153005119 (GRCh37)
Canonical SPDI:: NC_000001.11:153032642:G:T
Gene:: SPRR1B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.153032643G>T, NC_000001.10:g.153005119G>T, NM_003125.3:c.*28G>T, NM_003125.2:c.*28G>T

Select item 14877618174.

rs1487761817 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:153030543 (GRCh38)
1:153003019 (GRCh37)
Canonical SPDI:: NC_000001.11:153030542:C:G,NC_000001.11:153030542:C:T
Gene:: SPRR1B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000001.11:g.153030543C>G, NC_000001.11:g.153030543C>T, NC_000001.10:g.153003019C>G, NC_000001.10:g.153003019C>T

Select item 14863179515.

rs1486317951 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATGG [Show Flanks]
Chromosome:: 1:153029687 (GRCh38)
1:153002164 (GRCh37)
Canonical SPDI:: NC_000001.11:153029687:ATGGATGG:ATGGATGGATGG
Gene:: SPRR1B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATGGATGGATGG=0./0 (ALFA)
ATGG=0.000004/1 (TOPMED)
ATGG=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.153029688ATGG[3], NC_000001.10:g.153002164ATGG[3]

Select item 14861861076.

rs1486186107 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:153030746 (GRCh38)
1:153003222 (GRCh37)
Canonical SPDI:: NC_000001.11:153030745:C:T
Gene:: SPRR1B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.153030746C>T, NC_000001.10:g.153003222C>T

Select item 14851653247.

rs1485165324 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 1:153029630 (GRCh38)
1:153002106 (GRCh37)
Canonical SPDI:: NC_000001.11:153029629:T:A,NC_000001.11:153029629:T:C
Gene:: SPRR1B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.153029630T>A, NC_000001.11:g.153029630T>C, NC_000001.10:g.153002106T>A, NC_000001.10:g.153002106T>C

Select item 14850791278.

rs1485079127 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:153031910 (GRCh38)
1:153004386 (GRCh37)
Canonical SPDI:: NC_000001.11:153031909:G:A
Gene:: SPRR1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.153031910G>A, NC_000001.10:g.153004386G>A

Select item 14845518519.

rs1484551851 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:153030284 (GRCh38)
1:153002760 (GRCh37)
Canonical SPDI:: NC_000001.11:153030283:T:C
Gene:: SPRR1B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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_000001.11:g.153030284T>C, NC_000001.10:g.153002760T>C

Select item 148272549410.

rs1482725494 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:153030776 (GRCh38)
1:153003252 (GRCh37)
Canonical SPDI:: NC_000001.11:153030775:A:G
Gene:: SPRR1B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.153030776A>G, NC_000001.10:g.153003252A>G

Select item 148128915111.

rs1481289151 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 1:153032749 (GRCh38)
1:153005226 (GRCh37)
Canonical SPDI:: NC_000001.11:153032749:TTT:TTTT
Gene:: SPRR1B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: TTTT=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.153032752dup, NC_000001.10:g.153005228dup, NM_003125.3:c.*137dup, NM_003125.2:c.*137dup

Select item 148105030512.

rs1481050305 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:153030391 (GRCh38)
1:153002867 (GRCh37)
Canonical SPDI:: NC_000001.11:153030390:T:C
Gene:: SPRR1B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000001.11:g.153030391T>C, NC_000001.10:g.153002867T>C

Select item 147968348813.

rs1479683488 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 1:153033346 (GRCh38)
1:153005822 (GRCh37)
Canonical SPDI:: NC_000001.11:153033345:CC:C
Gene:: SPRR1B (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
-=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.153033347del, NC_000001.10:g.153005823del

Select item 147944670314.

rs1479446703 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:153031626 (GRCh38)
1:153004102 (GRCh37)
Canonical SPDI:: NC_000001.11:153031625:A:G
Gene:: SPRR1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000054/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000001.11:g.153031626A>G, NC_000001.10:g.153004102A>G

Select item 147912914915.

rs1479129149 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:153031621 (GRCh38)
1:153004097 (GRCh37)
Canonical SPDI:: NC_000001.11:153031620:A:G
Gene:: SPRR1B (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_000001.11:g.153031621A>G, NC_000001.10:g.153004097A>G

Select item 147894296516.

rs1478942965 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:153031987 (GRCh38)
1:153004463 (GRCh37)
Canonical SPDI:: NC_000001.11:153031986:C:T
Gene:: SPRR1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.153031987C>T, NC_000001.10:g.153004463C>T

Select item 147847358717.

rs1478473587 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 1:153029988 (GRCh38)
1:153002464 (GRCh37)
Canonical SPDI:: NC_000001.11:153029987:AAAAAAA:AAAAAA
Gene:: SPRR1B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.153029994del, NC_000001.10:g.153002470del

Select item 147810778618.

rs1478107786 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 1:153032075 (GRCh38)
1:153004551 (GRCh37)
Canonical SPDI:: NC_000001.11:153032074:A:G,NC_000001.11:153032074:A:T
Gene:: SPRR1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
G=0.000425/7 (TOMMO)
G=0.000546/1 (Korea1K)
G=0.001027/3 (KOREAN)
HGVS:: NC_000001.11:g.153032075A>G, NC_000001.11:g.153032075A>T, NC_000001.10:g.153004551A>G, NC_000001.10:g.153004551A>T

Select item 147741960819.

rs1477419608 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:153030257 (GRCh38)
1:153002733 (GRCh37)
Canonical SPDI:: NC_000001.11:153030256:T:C
Gene:: SPRR1B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.153030257T>C, NC_000001.10:g.153002733T>C

Select item 147585819720.

rs1475858197 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 1:153030839 (GRCh38)
1:153003315 (GRCh37)
Canonical SPDI:: NC_000001.11:153030834:ATATAT:ATAT
Gene:: SPRR1B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: ATAT=0./0 (ALFA)
HGVS:: NC_000001.11:g.153030835AT[2], NC_000001.10:g.153003311AT[2]

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