SNP Links for Gene (Select 5886) - SNP

Links from Gene

Items: 1 to 20 of 3110

<< First< Prev

Page of 156

Next >Last >>

Select item 14914875041.

rs1491487504 has merged into rs58546164 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:12944105 (GRCh38)
19:13054919 (GRCh37)
Canonical SPDI:: NC_000019.10:12944089:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:12944089:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:12944089:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:12944089:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:12944089:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:12944089:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12944089:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12944089:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12944089:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CALR (Varview), RAD23A (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.0843/325 (ALSPAC)
T=0.475/19 (GENOME_DK)
HGVS:: NC_000019.10:g.12944105_12944107del, NC_000019.10:g.12944106_12944107del, NC_000019.10:g.12944107del, NC_000019.10:g.12944107dup, NC_000019.10:g.12944106_12944107dup, NC_000019.10:g.12944105_12944107dup, NC_000019.10:g.12944104_12944107dup, NC_000019.10:g.12944103_12944107dup, NC_000019.10:g.12944090_12944107T[24]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.9:g.13054919_13054921del, NC_000019.9:g.13054920_13054921del, NC_000019.9:g.13054921del, NC_000019.9:g.13054921dup, NC_000019.9:g.13054920_13054921dup, NC_000019.9:g.13054919_13054921dup, NC_000019.9:g.13054918_13054921dup, NC_000019.9:g.13054917_13054921dup, NC_000019.9:g.13054904_13054921T[24]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_029662.1:g.10506_10508del, NG_029662.1:g.10507_10508del, NG_029662.1:g.10508del, NG_029662.1:g.10508dup, NG_029662.1:g.10507_10508dup, NG_029662.1:g.10506_10508dup, NG_029662.1:g.10505_10508dup, NG_029662.1:g.10504_10508dup, NG_029662.1:g.10491_10508T[24]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NM_004343.4:c.*192_*194del, NM_004343.4:c.*193_*194del, NM_004343.4:c.*194del, NM_004343.4:c.*194dup, NM_004343.4:c.*193_*194dup, NM_004343.4:c.*192_*194dup, NM_004343.4:c.*191_*194dup, NM_004343.4:c.*190_*194dup, NM_004343.4:c.*177_*194T[24]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NM_004343.3:c.*192_*194del, NM_004343.3:c.*193_*194del, NM_004343.3:c.*194del, NM_004343.3:c.*194dup, NM_004343.3:c.*193_*194dup, NM_004343.3:c.*192_*194dup, NM_004343.3:c.*191_*194dup, NM_004343.3:c.*190_*194dup, NM_004343.3:c.*177_*194T[24]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1]

Select item 14914384972.

rs1491438497 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 19:12947250 (GRCh38)
19:13058065 (GRCh37)
Canonical SPDI:: NC_000019.10:12947250:TT:TTT
Gene:: RAD23A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTT=0.000506/6 (ALFA)
T=0.000468/3 (1000Genomes)
T=0.000601/159 (TOPMED)
T=0.00308/90 (GnomAD)
HGVS:: NC_000019.10:g.12947252dup, NC_000019.9:g.13058066dup

Select item 14913805433.

rs1491380543 [Homo sapiens]

Variant type:: INS
Alleles:: ->TA,TG [Show Flanks]
Chromosome:: 19:12944548 (GRCh38)
19:13055363 (GRCh37)
Canonical SPDI:: NC_000019.10:12944548::TA,NC_000019.10:12944548::TG
Gene:: CALR (Varview), RAD23A (Varview)
Functional Consequence:: 2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: TG=0./0 (ALFA)
TG=0.00003/2 (GnomAD)
HGVS:: NC_000019.10:g.12944548_12944549insTA, NC_000019.10:g.12944548_12944549insTG, NC_000019.9:g.13055362_13055363insTA, NC_000019.9:g.13055362_13055363insTG, NG_029662.1:g.10949_10950insTA, NG_029662.1:g.10949_10950insTG

Select item 14912892224.

rs1491289222 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 19:12944548 (GRCh38)
19:13055362 (GRCh37)
Canonical SPDI:: NC_000019.10:12944547:TG:
Gene:: CALR (Varview), RAD23A (Varview)
Functional Consequence:: 2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00011/2 (TOMMO)
HGVS:: NC_000019.10:g.12944548_12944549del, NC_000019.9:g.13055362_13055363del, NG_029662.1:g.10949_10950del

Select item 14912829015.

rs1491282901 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 19:12944089 (GRCh38)
19:13054903 (GRCh37)
Canonical SPDI:: NC_000019.10:12944088:CT:
Gene:: CALR (Varview), RAD23A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000019.10:g.12944089_12944090del, NC_000019.9:g.13054903_13054904del, NG_029662.1:g.10490_10491del, NM_004343.4:c.*176_*177del, NM_004343.3:c.*176_*177del

Select item 14911060906.

rs1491106090 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,C,T [Show Flanks]
Chromosome:: 19:12944549 (GRCh38)
19:13055364 (GRCh37)
Canonical SPDI:: NC_000019.10:12944549::A,NC_000019.10:12944549::C,NC_000019.10:12944549::T
Gene:: CALR (Varview), RAD23A (Varview)
Functional Consequence:: 2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00014/2 (TOMMO)
C=0.015/9 (NorthernSweden)
HGVS:: NC_000019.10:g.12944549_12944550insA, NC_000019.10:g.12944549_12944550insC, NC_000019.10:g.12944549_12944550insT, NC_000019.9:g.13055363_13055364insA, NC_000019.9:g.13055363_13055364insC, NC_000019.9:g.13055363_13055364insT, NG_029662.1:g.10950_10951insA, NG_029662.1:g.10950_10951insC, NG_029662.1:g.10950_10951insT

Select item 14909851057.

rs1490985105 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:12953768 (GRCh38)
19:13064582 (GRCh37)
Canonical SPDI:: NC_000019.10:12953767:A:G
Gene:: RAD23A (Varview), GADD45GIP1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_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_000019.10:g.12953768A>G, NC_000019.9:g.13064582A>G, NM_052850.4:c.*440T>C

Select item 14905822628.

rs1490582262 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 19:12944542 (GRCh38)
19:13055356 (GRCh37)
Canonical SPDI:: NC_000019.10:12944541:T:
Gene:: CALR (Varview), RAD23A (Varview)
Functional Consequence:: 2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000047/5 (GnomAD)
HGVS:: NC_000019.10:g.12944542del, NC_000019.9:g.13055356del, NG_029662.1:g.10943del

Select item 14903310049.

rs1490331004 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 19:12947809 (GRCh38)
19:13058623 (GRCh37)
Canonical SPDI:: NC_000019.10:12947808:C:A,NC_000019.10:12947808:C:G,NC_000019.10:12947808:C:T
Gene:: RAD23A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.12947809C>A, NC_000019.10:g.12947809C>G, NC_000019.10:g.12947809C>T, NC_000019.9:g.13058623C>A, NC_000019.9:g.13058623C>G, NC_000019.9:g.13058623C>T

Select item 149024714210.

rs1490247142 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 19:12944328 (GRCh38)
19:13055142 (GRCh37)
Canonical SPDI:: NC_000019.10:12944327:C:A,NC_000019.10:12944327:C:G
Gene:: CALR (Varview), RAD23A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
A=0.000156/1 (1000Genomes)
HGVS:: NC_000019.10:g.12944328C>A, NC_000019.10:g.12944328C>G, NC_000019.9:g.13055142C>A, NC_000019.9:g.13055142C>G, NG_029662.1:g.10729C>A, NG_029662.1:g.10729C>G, NM_004343.4:c.*415C>A, NM_004343.4:c.*415C>G, NM_004343.3:c.*415C>A, NM_004343.3:c.*415C>G

Select item 149017006211.

rs1490170062 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:12945893 (GRCh38)
19:13056707 (GRCh37)
Canonical SPDI:: NC_000019.10:12945892:C:T
Gene:: RAD23A (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_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_000019.10:g.12945893C>T, NC_000019.9:g.13056707C>T, NG_029662.1:g.12294C>T, NM_005053.4:c.-56C>T, NM_005053.3:c.-56C>T, NM_001270362.2:c.-56C>T, NM_001270362.1:c.-56C>T, NR_072976.2:n.32C>T, NR_072976.1:n.80C>T, NM_001270363.2:c.-56C>T, NM_001270363.1:c.-56C>T

Select item 149005782112.

rs1490057821 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:12946518 (GRCh38)
19:13057332 (GRCh37)
Canonical SPDI:: NC_000019.10:12946517:G:T
Gene:: RAD23A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.12946518G>T, NC_000019.9:g.13057332G>T, NG_080751.1:g.264G>T

Select item 148978366013.

rs1489783660 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:12952589 (GRCh38)
19:13063403 (GRCh37)
Canonical SPDI:: NC_000019.10:12952588:T:A
Gene:: RAD23A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.12952589T>A, NC_000019.9:g.13063403T>A

Select item 148956446814.

rs1489564468 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:12945656 (GRCh38)
19:13056470 (GRCh37)
Canonical SPDI:: NC_000019.10:12945655:C:T
Gene:: RAD23A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
T=0.000034/9 (TOPMED)
HGVS:: NC_000019.10:g.12945656C>T, NC_000019.9:g.13056470C>T, NG_029662.1:g.12057C>T

Select item 148929341415.

rs1489293414 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:12952084 (GRCh38)
19:13062898 (GRCh37)
Canonical SPDI:: NC_000019.10:12952083:C:T
Gene:: RAD23A (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_000019.10:g.12952084C>T, NC_000019.9:g.13062898C>T

Select item 148790940716.

rs1487909407 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:12949998 (GRCh38)
19:13060812 (GRCh37)
Canonical SPDI:: NC_000019.10:12949997:C:T
Gene:: RAD23A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.12949998C>T, NC_000019.9:g.13060812C>T

Select item 148628914617.

rs1486289146 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:12944901 (GRCh38)
19:13055715 (GRCh37)
Canonical SPDI:: NC_000019.10:12944900:G:A
Gene:: CALR (Varview), RAD23A (Varview)
Functional Consequence:: 2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_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_000019.10:g.12944901G>A, NC_000019.9:g.13055715G>A, NG_029662.1:g.11302G>A

Select item 148602977718.

rs1486029777 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 19:12951348 (GRCh38)
19:13062162 (GRCh37)
Canonical SPDI:: NC_000019.10:12951347:T:
Gene:: RAD23A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000021/3 (GnomAD)
-=0.000026/7 (TOPMED)
HGVS:: NC_000019.10:g.12951348del, NC_000019.9:g.13062162del

Select item 148596664619.

rs1485966646 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:12949033 (GRCh38)
19:13059847 (GRCh37)
Canonical SPDI:: NC_000019.10:12949032:G:A
Gene:: RAD23A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.12949033G>A, NC_000019.9:g.13059847G>A

Select item 148591756020.

rs1485917560 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:12952950 (GRCh38)
19:13063764 (GRCh37)
Canonical SPDI:: NC_000019.10:12952949:C:G,NC_000019.10:12952949:C:T
Gene:: RAD23A (Varview), GADD45GIP1 (Varview)
Functional Consequence:: non_coding_transcript_variant,downstream_transcript_variant,coding_sequence_variant,synonymous_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.12952950C>G, NC_000019.10:g.12952950C>T, NC_000019.9:g.13063764C>G, NC_000019.9:g.13063764C>T, NM_005053.4:c.993C>G, NM_005053.4:c.993C>T, NM_005053.3:c.993C>G, NM_005053.3:c.993C>T, NM_001270362.2:c.990C>G, NM_001270362.2:c.990C>T, NM_001270362.1:c.990C>G, NM_001270362.1:c.990C>T, NR_072976.2:n.1024C>G, NR_072976.2:n.1024C>T, NR_072976.1:n.1072C>G, NR_072976.1:n.1072C>T, NM_001270363.2:c.828C>G, NM_001270363.2:c.828C>T, NM_001270363.1:c.828C>G, NM_001270363.1:c.828C>T

<< First< Prev

Page of 156

Next >Last >>

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 3110

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity