SNP Links for Gene (Select 146325) - SNP

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Select item 14914138941.

rs1491413894 has merged into rs59225364 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGG>-,G,GG,GGGG,GGGGG,GGGGGG,GGGGGGG,GGGGGGGG [Show Flanks]
Chromosome:: 16:560943 (GRCh38)
16:610943 (GRCh37)
Canonical SPDI:: NC_000016.10:560934:GGGGGGGGGGG:GGGGGGGG,NC_000016.10:560934:GGGGGGGGGGG:GGGGGGGGG,NC_000016.10:560934:GGGGGGGGGGG:GGGGGGGGGG,NC_000016.10:560934:GGGGGGGGGGG:GGGGGGGGGGGG,NC_000016.10:560934:GGGGGGGGGGG:GGGGGGGGGGGGG,NC_000016.10:560934:GGGGGGGGGGG:GGGGGGGGGGGGGG,NC_000016.10:560934:GGGGGGGGGGG:GGGGGGGGGGGGGGG,NC_000016.10:560934:GGGGGGGGGGG:GGGGGGGGGGGGGGGG
Gene:: PRR35 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGGGGGG=0./0 (ALFA)
G=0.275/11 (GENOME_DK)
-=0.4387/2197 (1000Genomes)
HGVS:: NC_000016.10:g.560943_560945del, NC_000016.10:g.560944_560945del, NC_000016.10:g.560945del, NC_000016.10:g.560945dup, NC_000016.10:g.560944_560945dup, NC_000016.10:g.560943_560945dup, NC_000016.10:g.560942_560945dup, NC_000016.10:g.560941_560945dup, NC_000016.9:g.610943_610945del, NC_000016.9:g.610944_610945del, NC_000016.9:g.610945del, NC_000016.9:g.610945dup, NC_000016.9:g.610944_610945dup, NC_000016.9:g.610943_610945dup, NC_000016.9:g.610942_610945dup, NC_000016.9:g.610941_610945dup, XM_017022960.3:c.-966_-964del, XM_017022960.3:c.-965_-964del, XM_017022960.3:c.-964del, XM_017022960.3:c.-964dup, XM_017022960.3:c.-965_-964dup, XM_017022960.3:c.-966_-964dup, XM_017022960.3:c.-967_-964dup, XM_017022960.3:c.-968_-964dup, XM_017022960.2:c.-966_-964del, XM_017022960.2:c.-965_-964del, XM_017022960.2:c.-964del, XM_017022960.2:c.-964dup, XM_017022960.2:c.-965_-964dup, XM_017022960.2:c.-966_-964dup, XM_017022960.2:c.-967_-964dup, XM_017022960.2:c.-968_-964dup, XM_017022960.1:c.-966_-964del, XM_017022960.1:c.-965_-964del, XM_017022960.1:c.-964del, XM_017022960.1:c.-964dup, XM_017022960.1:c.-965_-964dup, XM_017022960.1:c.-966_-964dup, XM_017022960.1:c.-967_-964dup, XM_017022960.1:c.-968_-964dup

Select item 14911176342.

rs1491117634 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TGGG [Show Flanks]
Chromosome:: 16:560935 (GRCh38)
16:610936 (GRCh37)
Canonical SPDI:: NC_000016.10:560935:GGG:GGGTGGG
Gene:: PRR35 (Varview)
Functional Consequence:: upstream_transcript_variant,5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GGGTGGG=0./0 (ALFA)
HGVS:: NC_000016.10:g.560938_560939insTGGG, NC_000016.9:g.610938_610939insTGGG, XM_017022960.3:c.-971_-970insTGGG, XM_017022960.2:c.-971_-970insTGGG, XM_017022960.1:c.-971_-970insTGGG

Select item 14906668453.

rs1490666845 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:563368 (GRCh38)
16:613368 (GRCh37)
Canonical SPDI:: NC_000016.10:563367:A:G
Gene:: PRR35 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000016.10:g.563368A>G, NC_000016.9:g.613368A>G, XM_017022960.3:c.74A>G, XM_017022960.2:c.74A>G, XM_017022960.1:c.74A>G, XM_017022959.3:c.74A>G, XM_017022959.2:c.74A>G, XM_017022959.1:c.74A>G, NM_145270.3:c.74A>G, NM_145270.2:c.74A>G, XM_017022961.1:c.74A>G, XP_016878449.1:p.His25Arg, XP_016878448.1:p.His25Arg, NP_660313.1:p.His25Arg, XP_016878450.1:p.His25Arg

Select item 14906056904.

rs1490605690 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 16:564683 (GRCh38)
16:614683 (GRCh37)
Canonical SPDI:: NC_000016.10:564682:C:A,NC_000016.10:564682:C:T
Gene:: PRR35 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000016.10:g.564683C>A, NC_000016.10:g.564683C>T, NC_000016.9:g.614683C>A, NC_000016.9:g.614683C>T, XM_017022960.3:c.1092C>A, XM_017022960.3:c.1092C>T, XM_017022960.2:c.1092C>A, XM_017022960.2:c.1092C>T, XM_017022960.1:c.1092C>A, XM_017022960.1:c.1092C>T, XM_017022959.3:c.1092C>A, XM_017022959.3:c.1092C>T, XM_017022959.2:c.1092C>A, XM_017022959.2:c.1092C>T, XM_017022959.1:c.1092C>A, XM_017022959.1:c.1092C>T, NM_145270.3:c.1092C>A, NM_145270.3:c.1092C>T, NM_145270.2:c.1092C>A, NM_145270.2:c.1092C>T, XM_017022961.1:c.390C>A, XM_017022961.1:c.390C>T

Select item 14903089335.

rs1490308933 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 16:562435 (GRCh38)
16:612435 (GRCh37)
Canonical SPDI:: NC_000016.10:562434:C:G,NC_000016.10:562434:C:T
Gene:: PRR35 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.562435C>G, NC_000016.10:g.562435C>T, NC_000016.9:g.612435C>G, NC_000016.9:g.612435C>T

Select item 14901387576.

rs1490138757 [Homo sapiens]

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

Select item 14893645187.

rs1489364518 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 16:559870 (GRCh38)
16:609870 (GRCh37)
Canonical SPDI:: NC_000016.10:559869:GG:G
Gene:: PRR35 (Varview)
Functional Consequence:: upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.559871del, NC_000016.9:g.609871del, XM_017022959.3:c.-404del, XM_017022959.2:c.-404del, XM_017022959.1:c.-404del

Select item 14891883148.

rs1489188314 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:562170 (GRCh38)
16:612170 (GRCh37)
Canonical SPDI:: NC_000016.10:562169:C:T
Gene:: PRR35 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.562170C>T, NC_000016.9:g.612170C>T

Select item 14891639799.

rs1489163979 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:563056 (GRCh38)
16:613056 (GRCh37)
Canonical SPDI:: NC_000016.10:563055:C:T
Gene:: PRR35 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000016.10:g.563056C>T, NC_000016.9:g.613056C>T

Select item 148906363210.

rs1489063632 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 16:563942 (GRCh38)
16:613942 (GRCh37)
Canonical SPDI:: NC_000016.10:563941:C:A,NC_000016.10:563941:C:T
Gene:: PRR35 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
T=0.000014/3 (GnomAD_exomes)
HGVS:: NC_000016.10:g.563942C>A, NC_000016.10:g.563942C>T, NC_000016.9:g.613942C>A, NC_000016.9:g.613942C>T, XM_017022960.3:c.648C>A, XM_017022960.3:c.648C>T, XM_017022960.2:c.648C>A, XM_017022960.2:c.648C>T, XM_017022960.1:c.648C>A, XM_017022960.1:c.648C>T, XM_017022959.3:c.648C>A, XM_017022959.3:c.648C>T, XM_017022959.2:c.648C>A, XM_017022959.2:c.648C>T, XM_017022959.1:c.648C>A, XM_017022959.1:c.648C>T, NM_145270.3:c.648C>A, NM_145270.3:c.648C>T, NM_145270.2:c.648C>A, NM_145270.2:c.648C>T, XP_016878449.1:p.Ser216Arg, XP_016878448.1:p.Ser216Arg, NP_660313.1:p.Ser216Arg

Select item 148841608811.

rs1488416088 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:562780 (GRCh38)
16:612780 (GRCh37)
Canonical SPDI:: NC_000016.10:562779:T:C
Gene:: PRR35 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.562780T>C, NC_000016.9:g.612780T>C

Select item 148837802612.

rs1488378026 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:561735 (GRCh38)
16:611735 (GRCh37)
Canonical SPDI:: NC_000016.10:561734:C:T
Gene:: PRR35 (Varview)
Functional Consequence:: upstream_transcript_variant,5_prime_UTR_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=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.561735C>T, NC_000016.9:g.611735C>T, XM_017022960.3:c.-174C>T, XM_017022960.2:c.-174C>T, XM_017022960.1:c.-174C>T

Select item 148785017113.

rs1487850171 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:558040 (GRCh38)
16:608040 (GRCh37)
Canonical SPDI:: NC_000016.10:558039:G:A
Gene:: PRR35 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.558040G>A, NC_000016.9:g.608040G>A

Select item 148775449114.

rs1487754491 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:560907 (GRCh38)
16:610907 (GRCh37)
Canonical SPDI:: NC_000016.10:560906:C:T
Gene:: PRR35 (Varview)
Functional Consequence:: upstream_transcript_variant,5_prime_UTR_variant,intron_variant,genic_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_000016.10:g.560907C>T, NC_000016.9:g.610907C>T, XM_017022960.3:c.-1002C>T, XM_017022960.2:c.-1002C>T, XM_017022960.1:c.-1002C>T

Select item 148754491015.

rs1487544910 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:561810 (GRCh38)
16:611810 (GRCh37)
Canonical SPDI:: NC_000016.10:561809:T:C
Gene:: PRR35 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_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_000016.10:g.561810T>C, NC_000016.9:g.611810T>C

Select item 148726867016.

rs1487268670 [Homo sapiens]

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

Select item 148721133817.

rs1487211338 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:564469 (GRCh38)
16:614469 (GRCh37)
Canonical SPDI:: NC_000016.10:564468:C:T
Gene:: PRR35 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.564469C>T, NC_000016.9:g.614469C>T

Select item 148713573418.

rs1487135734 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 16:560402 (GRCh38)
16:610402 (GRCh37)
Canonical SPDI:: NC_000016.10:560401:G:T
Gene:: PRR35 (Varview)
Functional Consequence:: upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,intron_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_000016.10:g.560402G>T, NC_000016.9:g.610402G>T, NM_145270.3:c.-299G>T