SNP Links for Gene (Select 6403) - SNP

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Select item 14915035771.

rs1491503577 has merged into rs3035296 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTGTGTGTGTGTGTGTGTGTG>-,TG,TGTG,TGTGTG,TGTGTGTG,TGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTG,TGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG [Show Flanks]
Chromosome:: 1:169603328 (GRCh38)
1:169572566 (GRCh37)
Canonical SPDI:: NC_000001.11:169603307:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTG,NC_000001.11:169603307:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:169603307:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:169603307:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:169603307:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:169603307:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:169603307:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:169603307:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:169603307:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:169603307:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:169603307:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:169603307:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:169603307:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:169603307:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:169603307:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:169603307:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:169603307:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:169603307:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:169603307:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:169603307:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:169603307:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:169603307:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
Gene:: SELP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGTGTGTG=0./0 (ALFA)
HGVS:: NC_000001.11:g.169603308TG[10], NC_000001.11:g.169603308TG[11], NC_000001.11:g.169603308TG[12], NC_000001.11:g.169603308TG[13], NC_000001.11:g.169603308TG[14], NC_000001.11:g.169603308TG[15], NC_000001.11:g.169603308TG[16], NC_000001.11:g.169603308TG[17], NC_000001.11:g.169603308TG[18], NC_000001.11:g.169603308TG[19], NC_000001.11:g.169603308TG[20], NC_000001.11:g.169603308TG[22], NC_000001.11:g.169603308TG[23], NC_000001.11:g.169603308TG[24], NC_000001.11:g.169603308TG[25], NC_000001.11:g.169603308TG[26], NC_000001.11:g.169603308TG[27], NC_000001.11:g.169603308TG[28], NC_000001.11:g.169603308TG[29], NC_000001.11:g.169603308TG[30], NC_000001.11:g.169603308TG[31], NC_000001.11:g.169603308TG[32], NC_000001.10:g.169572546TG[10], NC_000001.10:g.169572546TG[11], NC_000001.10:g.169572546TG[12], NC_000001.10:g.169572546TG[13], NC_000001.10:g.169572546TG[14], NC_000001.10:g.169572546TG[15], NC_000001.10:g.169572546TG[16], NC_000001.10:g.169572546TG[17], NC_000001.10:g.169572546TG[18], NC_000001.10:g.169572546TG[19], NC_000001.10:g.169572546TG[20], NC_000001.10:g.169572546TG[22], NC_000001.10:g.169572546TG[23], NC_000001.10:g.169572546TG[24], NC_000001.10:g.169572546TG[25], NC_000001.10:g.169572546TG[26], NC_000001.10:g.169572546TG[27], NC_000001.10:g.169572546TG[28], NC_000001.10:g.169572546TG[29], NC_000001.10:g.169572546TG[30], NC_000001.10:g.169572546TG[31], NC_000001.10:g.169572546TG[32], NG_012125.2:g.31791CA[10], NG_012125.2:g.31791CA[11], NG_012125.2:g.31791CA[12], NG_012125.2:g.31791CA[13], NG_012125.2:g.31791CA[14], NG_012125.2:g.31791CA[15], NG_012125.2:g.31791CA[16], NG_012125.2:g.31791CA[17], NG_012125.2:g.31791CA[18], NG_012125.2:g.31791CA[19], NG_012125.2:g.31791CA[20], NG_012125.2:g.31791CA[22], NG_012125.2:g.31791CA[23], NG_012125.2:g.31791CA[24], NG_012125.2:g.31791CA[25], NG_012125.2:g.31791CA[26], NG_012125.2:g.31791CA[27], NG_012125.2:g.31791CA[28], NG_012125.2:g.31791CA[29], NG_012125.2:g.31791CA[30], NG_012125.2:g.31791CA[31], NG_012125.2:g.31791CA[32]

Select item 14914144842.

rs1491414484 has merged into rs10603647 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTT>-,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:169620389 (GRCh38)
1:169589627 (GRCh37)
Canonical SPDI:: NC_000001.11:169620379:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000001.11:169620379:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:169620379:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:169620379:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:169620379:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:169620379:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:169620379:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:169620379:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:169620379:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:169620379:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:169620379:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:169620379:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SELP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000001.11:g.169620389_169620399del, NC_000001.11:g.169620395_169620399del, NC_000001.11:g.169620396_169620399del, NC_000001.11:g.169620397_169620399del, NC_000001.11:g.169620398_169620399del, NC_000001.11:g.169620399del, NC_000001.11:g.169620399dup, NC_000001.11:g.169620398_169620399dup, NC_000001.11:g.169620397_169620399dup, NC_000001.11:g.169620396_169620399dup, NC_000001.11:g.169620390_169620399dup, NC_000001.11:g.169620388_169620399dup, NC_000001.10:g.169589627_169589637del, NC_000001.10:g.169589633_169589637del, NC_000001.10:g.169589634_169589637del, NC_000001.10:g.169589635_169589637del, NC_000001.10:g.169589636_169589637del, NC_000001.10:g.169589637del, NC_000001.10:g.169589637dup, NC_000001.10:g.169589636_169589637dup, NC_000001.10:g.169589635_169589637dup, NC_000001.10:g.169589634_169589637dup, NC_000001.10:g.169589628_169589637dup, NC_000001.10:g.169589626_169589637dup, NG_012125.2:g.14750_14760del, NG_012125.2:g.14756_14760del, NG_012125.2:g.14757_14760del, NG_012125.2:g.14758_14760del, NG_012125.2:g.14759_14760del, NG_012125.2:g.14760del, NG_012125.2:g.14760dup, NG_012125.2:g.14759_14760dup, NG_012125.2:g.14758_14760dup, NG_012125.2:g.14757_14760dup, NG_012125.2:g.14751_14760dup, NG_012125.2:g.14749_14760dup

Select item 14913835453.

rs1491383545 has merged into rs113157169 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 1:169621111 (GRCh38)
1:169590349 (GRCh37)
Canonical SPDI:: NC_000001.11:169621093:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000001.11:169621093:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000001.11:169621093:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000001.11:169621093:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:169621093:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:169621093:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:169621093:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:169621093:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: SELP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGTGTGT=0./0 (ALFA)
HGVS:: NC_000001.11:g.169621095GT[8], NC_000001.11:g.169621095GT[9], NC_000001.11:g.169621095GT[10], NC_000001.11:g.169621095GT[11], NC_000001.11:g.169621095GT[12], NC_000001.11:g.169621095GT[14], NC_000001.11:g.169621095GT[15], NC_000001.11:g.169621095GT[16], NC_000001.10:g.169590333GT[8], NC_000001.10:g.169590333GT[9], NC_000001.10:g.169590333GT[10], NC_000001.10:g.169590333GT[11], NC_000001.10:g.169590333GT[12], NC_000001.10:g.169590333GT[14], NC_000001.10:g.169590333GT[15], NC_000001.10:g.169590333GT[16], NG_012125.2:g.14021CA[8], NG_012125.2:g.14021CA[9], NG_012125.2:g.14021CA[10], NG_012125.2:g.14021CA[11], NG_012125.2:g.14021CA[12], NG_012125.2:g.14021CA[14], NG_012125.2:g.14021CA[15], NG_012125.2:g.14021CA[16]

Select item 14913305864.

rs1491330586 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 1:169621246 (GRCh38)
1:169590485 (GRCh37)
Canonical SPDI:: NC_000001.11:169621246::G
Gene:: SELP (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000001.11:g.169621246_169621247insG, NC_000001.10:g.169590484_169590485insG, NG_012125.2:g.13893_13894insC

Select item 14911865645.

rs1491186564 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 1:169621247 (GRCh38)
1:169590485 (GRCh37)
Canonical SPDI:: NC_000001.11:169621245:TTT:T
Gene:: SELP (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000001.11:g.169621247_169621248del, NC_000001.10:g.169590485_169590486del, NG_012125.2:g.13893_13894del

Select item 14911496676.

rs1491149667 [Homo sapiens]

Variant type:: INS
Alleles:: ->CTGTGTGTGTGA [Show Flanks]
Chromosome:: 1:169603308 (GRCh38)
1:169572547 (GRCh37)
Canonical SPDI:: NC_000001.11:169603308::CTGTGTGTGTGA
Gene:: SELP (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000001.11:g.169603308_169603309insCTGTGTGTGTGA, NC_000001.10:g.169572546_169572547insCTGTGTGTGTGA, NG_012125.2:g.31831_31832insTCACACACACAG

Select item 14910419437.

rs1491041943 has merged into rs200426723 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA,AAAAA [Show Flanks]
Chromosome:: 1:169610191 (GRCh38)
1:169579429 (GRCh37)
Canonical SPDI:: NC_000001.11:169610180:AAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:169610180:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:169610180:AAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:169610180:AAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:169610180:AAAAAAAAAAAA:AAAAAAAAAAAAAAA
Gene:: SELP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
A=0.09333/56 (NorthernSweden)
A=0.1/4 (GENOME_DK)
HGVS:: NC_000001.11:g.169610191_169610192del, NC_000001.11:g.169610192del, NC_000001.11:g.169610192dup, NC_000001.11:g.169610191_169610192dup, NC_000001.11:g.169610190_169610192dup, NC_000001.10:g.169579429_169579430del, NC_000001.10:g.169579430del, NC_000001.10:g.169579430dup, NC_000001.10:g.169579429_169579430dup, NC_000001.10:g.169579428_169579430dup, NG_012125.2:g.24958_24959del, NG_012125.2:g.24959del, NG_012125.2:g.24959dup, NG_012125.2:g.24958_24959dup, NG_012125.2:g.24957_24959dup

Select item 14909630228.

rs1490963022 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:169592107 (GRCh38)
1:169561345 (GRCh37)
Canonical SPDI:: NC_000001.11:169592106:A:G
Gene:: SELP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.169592107A>G, NC_000001.10:g.169561345A>G, NG_012125.2:g.43033T>C

Select item 14908228219.

rs1490822821 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:169609170 (GRCh38)
1:169578408 (GRCh37)
Canonical SPDI:: NC_000001.11:169609169:G:A
Gene:: SELP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.169609170G>A, NC_000001.10:g.169578408G>A, NG_012125.2:g.25970C>T

Select item 149081517410.

rs1490815174 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:169603236 (GRCh38)
1:169572474 (GRCh37)
Canonical SPDI:: NC_000001.11:169603235:A:G
Gene:: SELP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.169603236A>G, NC_000001.10:g.169572474A>G, NG_012125.2:g.31904T>C

Select item 149078974811.

rs1490789748 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTATA>- [Show Flanks]
Chromosome:: 1:169622749 (GRCh38)
1:169591987 (GRCh37)
Canonical SPDI:: NC_000001.11:169622747:AGTATA:A
Gene:: SELP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000071/1 (TOMMO)
HGVS:: NC_000001.11:g.169622749_169622753del, NC_000001.10:g.169591987_169591991del, NG_012125.2:g.12388_12392del

Select item 149072203712.

rs1490722037 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:169604819 (GRCh38)
1:169574057 (GRCh37)
Canonical SPDI:: NC_000001.11:169604818:C:A
Gene:: SELP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.169604819C>A, NC_000001.10:g.169574057C>A, NG_012125.2:g.30321G>T

Select item 149067483913.

rs1490674839 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:169601053 (GRCh38)
1:169570291 (GRCh37)
Canonical SPDI:: NC_000001.11:169601052:C:G,NC_000001.11:169601052:C:T
Gene:: SELP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.169601053C>G, NC_000001.11:g.169601053C>T, NC_000001.10:g.169570291C>G, NC_000001.10:g.169570291C>T, NG_012125.2:g.34087G>C, NG_012125.2:g.34087G>A

Select item 149054349014.

rs1490543490 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:169611531 (GRCh38)
1:169580769 (GRCh37)
Canonical SPDI:: NC_000001.11:169611530:C:A
Gene:: SELP (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.169611531C>A, NC_000001.10:g.169580769C>A, NG_012125.2:g.23609G>T, NM_003005.4:c.1108G>T, NM_003005.3:c.1108G>T, XM_005245436.5:c.1108G>T, XM_005245436.4:c.1108G>T, XM_005245436.3:c.1108G>T, XM_005245436.2:c.1108G>T, XM_005245436.1:c.1108G>T, XM_005245435.3:c.1108G>T, XM_005245435.2:c.1108G>T, XM_005245435.1:c.1108G>T, XM_005245438.3:c.1108G>T, XM_005245438.2:c.1108G>T, XM_005245438.1:c.1108G>T, XM_005245439.3:c.1108G>T, XM_005245439.2:c.1108G>T, XM_005245439.1:c.1108G>T, NP_002996.2:p.Asp370Tyr, XP_005245493.1:p.Asp370Tyr, XP_005245492.1:p.Asp370Tyr, XP_005245495.1:p.Asp370Tyr, XP_005245496.1:p.Asp370Tyr

Select item 149051931815.

rs1490519318 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:169620981 (GRCh38)
1:169590219 (GRCh37)
Canonical SPDI:: NC_000001.11:169620980:C:G
Gene:: SELP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00018/3 (ALFA)
G=0.00004/1 (TOMMO)
G=0.00006/4 (GnomAD)
HGVS:: NC_000001.11:g.169620981C>G, NC_000001.10:g.169590219C>G, NG_012125.2:g.14159G>C

Select item 149047075916.

rs1490470759 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:169592695 (GRCh38)
1:169561933 (GRCh37)
Canonical SPDI:: NC_000001.11:169592694:A:T
Gene:: SELP (Varview)
Functional Consequence:: 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_000001.11:g.169592695A>T, NC_000001.10:g.169561933A>T, NG_012125.2:g.42445T>A

Select item 149024526217.

rs1490245262 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:169628269 (GRCh38)
1:169597507 (GRCh37)
Canonical SPDI:: NC_000001.11:169628268:G:A,NC_000001.11:169628268:G:C
Gene:: SELP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.169628269G>A, NC_000001.11:g.169628269G>C, NC_000001.10:g.169597507G>A, NC_000001.10:g.169597507G>C, NG_012125.2:g.6871C>T, NG_012125.2:g.6871C>G

Select item 149023357818.

rs1490233578 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:169599203 (GRCh38)
1:169568441 (GRCh37)
Canonical SPDI:: NC_000001.11:169599202:C:G
Gene:: SELP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.169599203C>G, NC_000001.10:g.169568441C>G, NG_012125.2:g.35937G>C

Select item 149021082019.

rs1490210820 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:169614202 (GRCh38)
1:169583440 (GRCh37)
Canonical SPDI:: NC_000001.11:169614201:C:T
Gene:: SELP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.169614202C>T, NC_000001.10:g.169583440C>T, NG_012125.2:g.20938G>A

Select item 149020931120.

rs1490209311 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:169625415 (GRCh38)
1:169594653 (GRCh37)
Canonical SPDI:: NC_000001.11:169625414:G:A
Gene:: SELP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000049/13 (TOPMED)
A=0.000057/8 (GnomAD)
HGVS:: NC_000001.11:g.169625415G>A, NC_000001.10:g.169594653G>A, NG_012125.2:g.9725C>T

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