SNP Links for Protein (Select 11036646) - SNP

Links from Protein

Items: 1 to 20 of 98

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Select item 14757397971.

rs1475739797 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:43565397 (GRCh38)
21:44985278 (GRCh37)
Canonical SPDI:: NC_000021.9:43565396:C:T
Gene:: HSF2BP (Varview), H2BC12L (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: T=0.00006/1 (TOMMO)
HGVS:: NC_000021.9:g.43565397C>T, NC_000021.8:g.44985278C>T, NG_011491.1:g.99097G>A, NM_017445.3:c.159C>T, NM_017445.2:c.159C>T, NM_017445.1:c.159C>T

Select item 14697084642.

rs1469708464 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:43565304 (GRCh38)
21:44985185 (GRCh37)
Canonical SPDI:: NC_000021.9:43565303:G:A
Gene:: HSF2BP (Varview), H2BC12L (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.0002/1 (ALFA)
HGVS:: NC_000021.9:g.43565304G>A, NC_000021.8:g.44985185G>A, NG_011491.1:g.99190C>T, NM_017445.3:c.66G>A, NM_017445.2:c.66G>A, NM_017445.1:c.66G>A

Select item 14534581623.

rs1453458162 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:43565244 (GRCh38)
21:44985125 (GRCh37)
Canonical SPDI:: NC_000021.9:43565243:G:A
Gene:: HSF2BP (Varview), H2BC12L (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: A=0.001/3 (KOREAN)
HGVS:: NC_000021.9:g.43565244G>A, NC_000021.8:g.44985125G>A, NG_011491.1:g.99250C>T, NM_017445.3:c.6G>A, NM_017445.2:c.6G>A, NM_017445.1:c.6G>A

Select item 14351375334.

rs1435137533 [Homo sapiens]

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

Select item 14189763905.

rs1418976390 [Homo sapiens]

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

Select item 14121944506.

rs1412194450 [Homo sapiens]

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

Select item 14117555077.

rs1411755507 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:43565436 (GRCh38)
21:44985317 (GRCh37)
Canonical SPDI:: NC_000021.9:43565435:C:T
Gene:: HSF2BP (Varview), H2BC12L (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.0013/6 (ALFA)
T=0.0013/6 (Estonian)
HGVS:: NC_000021.9:g.43565436C>T, NC_000021.8:g.44985317C>T, NG_011491.1:g.99058G>A, NM_017445.3:c.198C>T, NM_017445.2:c.198C>T, NM_017445.1:c.198C>T

Select item 13984111998.

rs1398411199 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:43565339 (GRCh38)
21:44985220 (GRCh37)
Canonical SPDI:: NC_000021.9:43565338:G:A
Gene:: HSF2BP (Varview), H2BC12L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: A=0.0003/1 (KOREAN)
HGVS:: NC_000021.9:g.43565339G>A, NC_000021.8:g.44985220G>A, NG_011491.1:g.99155C>T, NM_017445.3:c.101G>A, NM_017445.2:c.101G>A, NM_017445.1:c.101G>A, NP_059141.1:p.Arg34His

Select item 13573747629.

rs1357374762 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:43565577 (GRCh38)
21:44985458 (GRCh37)
Canonical SPDI:: NC_000021.9:43565576:C:T
Gene:: HSF2BP (Varview), H2BC12L (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency
MAF:: T=0.00006/1 (TOMMO)
HGVS:: NC_000021.9:g.43565577C>T, NC_000021.8:g.44985458C>T, NG_011491.1:g.98917G>A, NM_017445.3:c.339C>T, NM_017445.2:c.339C>T, NM_017445.1:c.339C>T

Select item 135417366010.

rs1354173660 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:43565443 (GRCh38)
21:44985324 (GRCh37)
Canonical SPDI:: NC_000021.9:43565442:G:A
Gene:: HSF2BP (Varview), H2BC12L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
HGVS:: NC_000021.9:g.43565443G>A, NC_000021.8:g.44985324G>A, NG_011491.1:g.99051C>T, NM_017445.3:c.205G>A, NM_017445.2:c.205G>A, NM_017445.1:c.205G>A, NP_059141.1:p.Asp69Asn

Select item 134828313211.

rs1348283132 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:43565327 (GRCh38)
21:44985208 (GRCh37)
Canonical SPDI:: NC_000021.9:43565326:G:A
Gene:: HSF2BP (Varview), H2BC12L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: A=0.00006/1 (TOMMO)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000021.9:g.43565327G>A, NC_000021.8:g.44985208G>A, NG_011491.1:g.99167C>T, NM_017445.3:c.89G>A, NM_017445.2:c.89G>A, NM_017445.1:c.89G>A, NP_059141.1:p.Arg30His

Select item 131919483412.

rs1319194834 [Homo sapiens]

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

Select item 125156308213.

rs1251563082 [Homo sapiens]

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

Select item 123389398114.

rs1233893981 [Homo sapiens]

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

Select item 121378463315.

rs1213784633 [Homo sapiens]

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

Select item 121055844316.

rs1210558443 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:43565500 (GRCh38)
21:44985381 (GRCh37)
Canonical SPDI:: NC_000021.9:43565499:T:C
Gene:: HSF2BP (Varview), H2BC12L (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.0022/10 (ALFA)
C=0.002/9 (Estonian)
HGVS:: NC_000021.9:g.43565500T>C, NC_000021.8:g.44985381T>C, NG_011491.1:g.98994A>G, NM_017445.3:c.262T>C, NM_017445.2:c.262T>C, NM_017445.1:c.262T>C, NP_059141.1:p.Ser88Pro

Select item 118049255317.

rs1180492553 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:43565392 (GRCh38)
21:44985273 (GRCh37)
Canonical SPDI:: NC_000021.9:43565391:G:A
Gene:: HSF2BP (Varview), H2BC12L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000021.9:g.43565392G>A, NC_000021.8:g.44985273G>A, NG_011491.1:g.99102C>T, NM_017445.3:c.154G>A, NM_017445.2:c.154G>A, NM_017445.1:c.154G>A, NP_059141.1:p.Asp52Asn

Select item 116482190218.

rs1164821902 [Homo sapiens]

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

Select item 105225180419.

rs1052251804 [Homo sapiens]

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

Select item 104808457920.

rs1048084579 [Homo sapiens]

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

dbSNP

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Links from Protein

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