SNP Links for Gene (Select 6271) - SNP

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Select item 14913267361.

rs1491326736 has merged into rs397863604 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:153632278 (GRCh38)
1:153604754 (GRCh37)
Canonical SPDI:: NC_000001.11:153632266:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:153632266:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:153632266:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:153632266:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:153632266:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:153632266:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:153632266:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:153632266:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:153632266:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:153632266:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:153632266:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:153632266:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:153632266:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:153632266:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:153632266:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:153632266:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:153632266:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:153632266:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:153632266:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: S100A1 (Varview), S100A13 (Varview), CHTOP (Varview)
Functional Consequence:: genic_upstream_transcript_variant,500B_downstream_variant,downstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000001.11:g.153632278_153632288del, NC_000001.11:g.153632279_153632288del, NC_000001.11:g.153632280_153632288del, NC_000001.11:g.153632282_153632288del, NC_000001.11:g.153632283_153632288del, NC_000001.11:g.153632284_153632288del, NC_000001.11:g.153632285_153632288del, NC_000001.11:g.153632286_153632288del, NC_000001.11:g.153632287_153632288del, NC_000001.11:g.153632288del, NC_000001.11:g.153632288dup, NC_000001.11:g.153632287_153632288dup, NC_000001.11:g.153632286_153632288dup, NC_000001.11:g.153632285_153632288dup, NC_000001.11:g.153632284_153632288dup, NC_000001.11:g.153632283_153632288dup, NC_000001.11:g.153632281_153632288dup, NC_000001.11:g.153632280_153632288dup, NC_000001.11:g.153632273_153632288dup, NC_000001.10:g.153604754_153604764del, NC_000001.10:g.153604755_153604764del, NC_000001.10:g.153604756_153604764del, NC_000001.10:g.153604758_153604764del, NC_000001.10:g.153604759_153604764del, NC_000001.10:g.153604760_153604764del, NC_000001.10:g.153604761_153604764del, NC_000001.10:g.153604762_153604764del, NC_000001.10:g.153604763_153604764del, NC_000001.10:g.153604764del, NC_000001.10:g.153604764dup, NC_000001.10:g.153604763_153604764dup, NC_000001.10:g.153604762_153604764dup, NC_000001.10:g.153604761_153604764dup, NC_000001.10:g.153604760_153604764dup, NC_000001.10:g.153604759_153604764dup, NC_000001.10:g.153604757_153604764dup, NC_000001.10:g.153604756_153604764dup, NC_000001.10:g.153604749_153604764dup, NG_030030.1:g.3297_3307del, NG_030030.1:g.3298_3307del, NG_030030.1:g.3299_3307del, NG_030030.1:g.3301_3307del, NG_030030.1:g.3302_3307del, NG_030030.1:g.3303_3307del, NG_030030.1:g.3304_3307del, NG_030030.1:g.3305_3307del, NG_030030.1:g.3306_3307del, NG_030030.1:g.3307del, NG_030030.1:g.3307dup, NG_030030.1:g.3306_3307dup, NG_030030.1:g.3305_3307dup, NG_030030.1:g.3304_3307dup, NG_030030.1:g.3303_3307dup, NG_030030.1:g.3302_3307dup, NG_030030.1:g.3300_3307dup, NG_030030.1:g.3299_3307dup, NG_030030.1:g.3292_3307dup

Select item 14904432302.

rs1490443230 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:153628050 (GRCh38)
1:153600526 (GRCh37)
Canonical SPDI:: NC_000001.11:153628049:G:A
Gene:: S100A1 (Varview), S100A13 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.153628050G>A, NC_000001.10:g.153600526G>A, XM_047427401.1:c.-629C>T, XM_047427439.1:c.-629C>T, XM_047427444.1:c.-629C>T, XM_047427445.1:c.-629C>T

Select item 14898986173.

rs1489898617 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:153628036 (GRCh38)
1:153600512 (GRCh37)
Canonical SPDI:: NC_000001.11:153628035:C:T
Gene:: S100A1 (Varview), S100A13 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_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_000001.11:g.153628036C>T, NC_000001.10:g.153600512C>T, XM_047427401.1:c.-615G>A, XM_047427439.1:c.-615G>A, XM_047427444.1:c.-615G>A, XM_047427445.1:c.-615G>A

Select item 14887698664.

rs1488769866 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:153630013 (GRCh38)
1:153602489 (GRCh37)
Canonical SPDI:: NC_000001.11:153630012:G:A
Gene:: S100A1 (Varview), S100A13 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_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.153630013G>A, NC_000001.10:g.153602489G>A, NG_030030.1:g.1032G>A

Select item 14883783395.

rs1488378339 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:153631892 (GRCh38)
1:153604368 (GRCh37)
Canonical SPDI:: NC_000001.11:153631891:C:G,NC_000001.11:153631891:C:T
Gene:: S100A1 (Varview), S100A13 (Varview)
Functional Consequence:: upstream_transcript_variant,3_prime_UTR_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_000001.11:g.153631892C>G, NC_000001.11:g.153631892C>T, NC_000001.10:g.153604368C>G, NC_000001.10:g.153604368C>T, NG_030030.1:g.2911C>G, NG_030030.1:g.2911C>T, NM_006271.2:c.*51C>G, NM_006271.2:c.*51C>T, NM_006271.1:c.*51C>G, NM_006271.1:c.*51C>T

Select item 14880651856.

rs1488065185 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:153629950 (GRCh38)
1:153602426 (GRCh37)
Canonical SPDI:: NC_000001.11:153629949:C:G
Gene:: S100A1 (Varview), S100A13 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.153629950C>G, NC_000001.10:g.153602426C>G, NG_030030.1:g.969C>G

Select item 14866341647.

rs1486634164 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:153631098 (GRCh38)
1:153603574 (GRCh37)
Canonical SPDI:: NC_000001.11:153631097:T:G
Gene:: S100A1 (Varview), S100A13 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,genic_upstream_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.153631098T>G, NC_000001.10:g.153603574T>G, NG_030030.1:g.2117T>G, XM_011509862.4:c.-382A>C, XM_011509862.3:c.-382A>C, XM_011509862.2:c.-382A>C, XM_011509862.1:c.-382A>C, XM_005245434.4:c.-382A>C, XM_005245434.3:c.-382A>C, XM_005245434.2:c.-382A>C, XM_005245434.1:c.-382A>C, XM_017002035.3:c.-266A>C, XM_017002035.2:c.-266A>C, XM_017002035.1:c.-266A>C, XM_017002034.3:c.-265A>C, XM_017002034.2:c.-265A>C, XM_017002034.1:c.-265A>C, NM_001024210.2:c.-149A>C, NM_001024210.1:c.-149A>C, XM_047427409.1:c.-914A>C, XM_047427401.1:c.-904A>C, XM_047427439.1:c.-904A>C, XM_047427444.1:c.-904A>C, XM_047427407.1:c.-726A>C, XM_047427408.1:c.-586A>C, XM_047427410.1:c.-149A>C, XM_047427406.1:c.-293A>C

Select item 14865457138.

rs1486545713 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 1:153631760 (GRCh38)
1:153604236 (GRCh37)
Canonical SPDI:: NC_000001.11:153631759:G:A,NC_000001.11:153631759:G:C,NC_000001.11:153631759:G:T
Gene:: S100A1 (Varview), S100A13 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.153631760G>A, NC_000001.11:g.153631760G>C, NC_000001.11:g.153631760G>T, NC_000001.10:g.153604236G>A, NC_000001.10:g.153604236G>C, NC_000001.10:g.153604236G>T, NG_030030.1:g.2779G>A, NG_030030.1:g.2779G>C, NG_030030.1:g.2779G>T, NM_006271.2:c.204G>A, NM_006271.2:c.204G>C, NM_006271.2:c.204G>T, NM_006271.1:c.204G>A, NM_006271.1:c.204G>C, NM_006271.1:c.204G>T

Select item 14836392249.

rs1483639224 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:153631838 (GRCh38)
1:153604314 (GRCh37)
Canonical SPDI:: NC_000001.11:153631837:T:C
Gene:: S100A1 (Varview), S100A13 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.153631838T>C, NC_000001.10:g.153604314T>C, NG_030030.1:g.2857T>C, NM_006271.2:c.282T>C, NM_006271.1:c.282T>C

Select item 148359565510.

rs1483595655 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:153628849 (GRCh38)
1:153601325 (GRCh37)
Canonical SPDI:: NC_000001.11:153628848:C:G,NC_000001.11:153628848:C:T
Gene:: S100A1 (Varview), S100A13 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.153628849C>G, NC_000001.11:g.153628849C>T, NC_000001.10:g.153601325C>G, NC_000001.10:g.153601325C>T

Select item 148310192911.

rs1483101929 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:153632038 (GRCh38)
1:153604514 (GRCh37)
Canonical SPDI:: NC_000001.11:153632037:C:T
Gene:: S100A1 (Varview), S100A13 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,3_prime_UTR_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.153632038C>T, NC_000001.10:g.153604514C>T, NG_030030.1:g.3057C>T, XM_011509862.4:c.-400G>A, XM_011509862.3:c.-400G>A, XM_011509862.2:c.-400G>A, XM_011509862.1:c.-400G>A, XM_017002035.3:c.-284G>A, XM_017002035.2:c.-284G>A, XM_017002035.1:c.-284G>A, XM_017002034.3:c.-283G>A, XM_017002034.2:c.-283G>A, XM_017002034.1:c.-283G>A, NM_001024210.2:c.-167G>A, NM_001024210.1:c.-167G>A, NM_006271.2:c.*197C>T, XM_047427409.1:c.-932G>A, XM_047427401.1:c.-922G>A, XM_047427439.1:c.-922G>A, XM_047427444.1:c.-922G>A, XM_047427445.1:c.-889G>A, XM_047427407.1:c.-744G>A, XM_047427408.1:c.-604G>A, XM_047427410.1:c.-167G>A, XM_047427406.1:c.-311G>A, XM_047427433.1:c.-367G>A, XM_047427404.1:c.-182G>A, XM_047427435.1:c.-250G>A, XM_047427413.1:c.-134G>A, XM_047427446.1:c.-182G>A, XM_047427417.1:c.-66G>A, XM_047427419.1:c.-66G>A, XM_047427400.1:c.114G>A, XP_047283356.1:p.Met38Ile

Select item 148295704512.

rs1482957045 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:153631269 (GRCh38)
1:153603745 (GRCh37)
Canonical SPDI:: NC_000001.11:153631268:G:A
Gene:: S100A1 (Varview), S100A13 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000001.11:g.153631269G>A, NC_000001.10:g.153603745G>A, NG_030030.1:g.2288G>A, XM_005245434.4:c.-553C>T

Select item 148290747113.

rs1482907471 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:153630254 (GRCh38)
1:153602730 (GRCh37)
Canonical SPDI:: NC_000001.11:153630253:C:T
Gene:: S100A1 (Varview), S100A13 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.153630254C>T, NC_000001.10:g.153602730C>T, NG_030030.1:g.1273C>T

Select item 148206714614.

rs1482067146 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:153630151 (GRCh38)
1:153602627 (GRCh37)
Canonical SPDI:: NC_000001.11:153630150:A:G
Gene:: S100A1 (Varview), S100A13 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.153630151A>G, NC_000001.10:g.153602627A>G, NG_030030.1:g.1170A>G

Select item 148197281715.

rs1481972817 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:153630808 (GRCh38)
1:153603284 (GRCh37)
Canonical SPDI:: NC_000001.11:153630807:G:A
Gene:: S100A1 (Varview), S100A13 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,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.153630808G>A, NC_000001.10:g.153603284G>A, NG_030030.1:g.1827G>A

Select item 148192026916.

rs1481920269 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:153629825 (GRCh38)
1:153602301 (GRCh37)
Canonical SPDI:: NC_000001.11:153629824:C:A
Gene:: S100A1 (Varview), S100A13 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_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.153629825C>A, NC_000001.10:g.153602301C>A, NG_030030.1:g.844C>A

Select item 148164280217.

rs1481642802 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 1:153627928 (GRCh38)
1:153600404 (GRCh37)
Canonical SPDI:: NC_000001.11:153627927:T:A,NC_000001.11:153627927:T:G
Gene:: S100A1 (Varview), S100A13 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000001.11:g.153627928T>A, NC_000001.11:g.153627928T>G, NC_000001.10:g.153600404T>A, NC_000001.10:g.153600404T>G, XM_047427401.1:c.-507A>T, XM_047427401.1:c.-507A>C, XM_047427439.1:c.-507A>T, XM_047427439.1:c.-507A>C, XM_047427444.1:c.-507A>T, XM_047427444.1:c.-507A>C, XM_047427445.1:c.-507A>T, XM_047427445.1:c.-507A>C

Select item 148114598418.

rs1481145984 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:153631108 (GRCh38)
1:153603584 (GRCh37)
Canonical SPDI:: NC_000001.11:153631107:G:A,NC_000001.11:153631107:G:T
Gene:: S100A1 (Varview), S100A13 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.00003/8 (TOPMED)
HGVS:: NC_000001.11:g.153631108G>A, NC_000001.11:g.153631108G>T, NC_000001.10:g.153603584G>A, NC_000001.10:g.153603584G>T, NG_030030.1:g.2127G>A, NG_030030.1:g.2127G>T, XM_011509862.4:c.-392C>T, XM_011509862.4:c.-392C>A, XM_011509862.3:c.-392C>T, XM_011509862.3:c.-392C>A, XM_011509862.2:c.-392C>T, XM_011509862.2:c.-392C>A, XM_011509862.1:c.-392C>T, XM_011509862.1:c.-392C>A, XM_005245434.4:c.-392C>T, XM_005245434.4:c.-392C>A, XM_005245434.3:c.-392C>T, XM_005245434.3:c.-392C>A, XM_005245434.2:c.-392C>T, XM_005245434.2:c.-392C>A, XM_005245434.1:c.-392C>T, XM_005245434.1:c.-392C>A, XM_017002035.3:c.-276C>T, XM_017002035.3:c.-276C>A, XM_017002035.2:c.-276C>T, XM_017002035.2:c.-276C>A, XM_017002035.1:c.-276C>T, XM_017002035.1:c.-276C>A, XM_017002034.3:c.-275C>T, XM_017002034.3:c.-275C>A, XM_017002034.2:c.-275C>T, XM_017002034.2:c.-275C>A, XM_017002034.1:c.-275C>T, XM_017002034.1:c.-275C>A, NM_001024210.2:c.-159C>T, NM_001024210.2:c.-159C>A, NM_001024210.1:c.-159C>T, NM_001024210.1:c.-159C>A, XM_047427409.1:c.-924C>T, XM_047427409.1:c.-924C>A, XM_047427401.1:c.-914C>T, XM_047427401.1:c.-914C>A, XM_047427439.1:c.-914C>T, XM_047427439.1:c.-914C>A, XM_047427444.1:c.-914C>T, XM_047427444.1:c.-914C>A, XM_047427407.1:c.-736C>T, XM_047427407.1:c.-736C>A, XM_047427408.1:c.-596C>T, XM_047427408.1:c.-596C>A, XM_047427410.1:c.-159C>T, XM_047427410.1:c.-159C>A, XM_047427406.1:c.-303C>T, XM_047427406.1:c.-303C>A

Select item 148112138419.

rs1481121384 [Homo sapiens]

Variant type:: DELINS
Alleles:: CGT>- [Show Flanks]
Chromosome:: 1:153627722 (GRCh38)
1:153600198 (GRCh37)
Canonical SPDI:: NC_000001.11:153627720:TCGT:T
Gene:: S100A1 (Varview), S100A13 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.153627722_153627724del, NC_000001.10:g.153600198_153600200del, XM_047427401.1:c.-302_-300del, XM_047427439.1:c.-302_-300del, XM_047427444.1:c.-302_-300del, XM_047427445.1:c.-302_-300del

Select item 148102019220.

rs1481020192 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:153632264 (GRCh38)
1:153604740 (GRCh37)
Canonical SPDI:: NC_000001.11:153632263:A:T
Gene:: S100A1 (Varview), S100A13 (Varview), CHTOP (Varview)
Functional Consequence:: 2KB_upstream_variant,downstream_transcript_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000009/1 (GnomAD)
HGVS:: NC_000001.11:g.153632264A>T, NC_000001.10:g.153604740A>T, NG_030030.1:g.3283A>T

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