SNP Links for Gene (Select 65117) - SNP

Links from Gene

Items: 1 to 20 of 1000

<< First< Prev

Page of 50

Next >Last >>

Select item 14914941991.

rs1491494199 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 12:122507015 (GRCh38)
12:122991563 (GRCh37)
Canonical SPDI:: NC_000012.12:122507015:C:CC
Gene:: RSRC2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.122507016dup, NC_000012.11:g.122991563dup

Select item 14913424562.

rs1491342456 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 12:122509802 (GRCh38)
12:122994350 (GRCh37)
Canonical SPDI:: NC_000012.12:122509802::T
Gene:: RSRC2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000034/9 (TOPMED)
HGVS:: NC_000012.12:g.122509802_122509803insT, NC_000012.11:g.122994349_122994350insT

Select item 14913046573.

rs1491304657 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 12:122507503 (GRCh38)
12:122992051 (GRCh37)
Canonical SPDI:: NC_000012.12:122507503::A
Gene:: RSRC2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000012.12:g.122507503_122507504insA, NC_000012.11:g.122992050_122992051insA

Select item 14911631484.

rs1491163148 [Homo sapiens]

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

Select item 14910382925.

rs1491038292 has merged into rs200977113 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA,AAAAA [Show Flanks]
Chromosome:: 12:122507515 (GRCh38)
12:122992062 (GRCh37)
Canonical SPDI:: NC_000012.12:122507504:AAAAAAAAAAAA:AAAAAAAAAA,NC_000012.12:122507504:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:122507504:AAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:122507504:AAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:122507504:AAAAAAAAAAAA:AAAAAAAAAAAAAAA
Gene:: RSRC2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
-=0.09685/320 (1000Genomes)
A=0.15/6 (GENOME_DK)
A=0.16054/96 (NorthernSweden)
A=0.18123/672 (TWINSUK)
A=0.18864/727 (ALSPAC)
HGVS:: NC_000012.12:g.122507515_122507516del, NC_000012.12:g.122507516del, NC_000012.12:g.122507516dup, NC_000012.12:g.122507515_122507516dup, NC_000012.12:g.122507514_122507516dup, NC_000012.11:g.122992062_122992063del, NC_000012.11:g.122992063del, NC_000012.11:g.122992063dup, NC_000012.11:g.122992062_122992063dup, NC_000012.11:g.122992061_122992063dup

Select item 14909476366.

rs1490947636 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:122519758 (GRCh38)
12:123004305 (GRCh37)
Canonical SPDI:: NC_000012.12:122519757:A:G
Gene:: RSRC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.122519758A>G, NC_000012.11:g.123004305A>G

Select item 14909326637.

rs1490932663 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:122520930 (GRCh38)
12:123005477 (GRCh37)
Canonical SPDI:: NC_000012.12:122520929:A:G
Gene:: RSRC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.122520930A>G, NC_000012.11:g.123005477A>G

Select item 14909219868.

rs1490921986 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:122527524 (GRCh38)
12:123012071 (GRCh37)
Canonical SPDI:: NC_000012.12:122527523:A:G
Gene:: KNTC1 (Varview), RSRC2 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_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_000012.12:g.122527524A>G, NC_000012.11:g.123012071A>G, NG_046952.1:g.5276A>G

Select item 14908882969.

rs1490888296 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 12:122505730 (GRCh38)
12:122990277 (GRCh37)
Canonical SPDI:: NC_000012.12:122505729:A:C
Gene:: RSRC2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.122505730A>C, NC_000012.11:g.122990277A>C, NG_053194.1:g.344T>G

Select item 149084103510.

rs1490841035 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:122526097 (GRCh38)
12:123010644 (GRCh37)
Canonical SPDI:: NC_000012.12:122526096:C:T
Gene:: KNTC1 (Varview), RSRC2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.0004/2 (TOMMO)
HGVS:: NC_000012.12:g.122526097C>T, NC_000012.11:g.123010644C>T, NG_046952.1:g.3849C>T

Select item 149083358011.

rs1490833580 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 12:122514084 (GRCh38)
12:122998631 (GRCh37)
Canonical SPDI:: NC_000012.12:122514083:C:A,NC_000012.12:122514083:C:G
Gene:: RSRC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000021/3 (GnomAD)
G=0.000342/1 (KOREAN)
HGVS:: NC_000012.12:g.122514084C>A, NC_000012.12:g.122514084C>G, NC_000012.11:g.122998631C>A, NC_000012.11:g.122998631C>G

Select item 149073344112.

rs1490733441 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:122511489 (GRCh38)
12:122996036 (GRCh37)
Canonical SPDI:: NC_000012.12:122511488:T:C
Gene:: RSRC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000021/3 (GnomAD)
HGVS:: NC_000012.12:g.122511489T>C, NC_000012.11:g.122996036T>C

Select item 149070573713.

rs1490705737 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 12:122514599 (GRCh38)
12:122999146 (GRCh37)
Canonical SPDI:: NC_000012.12:122514598:G:A,NC_000012.12:122514598:G:T
Gene:: RSRC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
T=0.000142/2 (TOMMO)
HGVS:: NC_000012.12:g.122514599G>A, NC_000012.12:g.122514599G>T, NC_000012.11:g.122999146G>A, NC_000012.11:g.122999146G>T

Select item 149068761114.

rs1490687611 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:122520565 (GRCh38)
12:123005112 (GRCh37)
Canonical SPDI:: NC_000012.12:122520564:C:T
Gene:: RSRC2 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,5_prime_UTR_variant
HGVS:: NC_000012.12:g.122520565C>T, NC_000012.11:g.123005112C>T, NR_036435.2:n.307G>A, NR_036435.1:n.384G>A, NR_036434.2:n.307G>A, NR_036434.1:n.384G>A, NM_198261.2:c.-54G>A, NM_198262.2:c.-551G>A, XM_047429369.1:c.-54G>A, XM_047429370.1:c.-54G>A, XM_047429372.1:c.-54G>A, NM_198261.1:c.-54G>A, NM_198262.1:c.-551G>A

Select item 149051817415.

rs1490518174 [Homo sapiens]

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

Select item 149047002116.

rs1490470021 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:122509879 (GRCh38)
12:122994426 (GRCh37)
Canonical SPDI:: NC_000012.12:122509878:C:T
Gene:: RSRC2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.122509879C>T, NC_000012.11:g.122994426C>T

Select item 149034301217.

rs1490343012 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 12:122504267 (GRCh38)
12:122988814 (GRCh37)
Canonical SPDI:: NC_000012.12:122504266:A:C
Gene:: RSRC2 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.122504267A>C, NC_000012.11:g.122988814A>C, NG_053194.1:g.1807T>G, NM_023012.6:c.*1260T>G, XM_005253601.3:c.*1260T>G, XM_005253602.3:c.*1260T>G, XM_011538688.3:c.*1260T>G, XM_017019830.3:c.*1260T>G, NR_036435.2:n.2748T>G, NR_036434.2:n.2729T>G, NR_036436.2:n.2670T>G, XM_047429369.1:c.*1260T>G, XM_047429370.1:c.*1260T>G, XM_047429371.1:c.*1260T>G, XM_047429372.1:c.*1260T>G

Select item 149020386518.

rs1490203865 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:122526869 (GRCh38)
12:123011416 (GRCh37)
Canonical SPDI:: NC_000012.12:122526868:C:A
Gene:: KNTC1 (Varview), RSRC2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: A=0.0033/6 (Korea1K)
HGVS:: NC_000012.12:g.122526869C>A, NC_000012.11:g.123011416C>A, NG_046952.1:g.4621C>A, NM_023012.6:c.-16G>T, NM_023012.5:c.-16G>T, XM_005253601.3:c.-16G>T, XM_005253601.2:c.-16G>T, XM_005253601.1:c.-16G>T, XM_011538688.3:c.-16G>T, XM_011538688.2:c.-16G>T, XM_011538688.1:c.-16G>T, XM_017019830.3:c.-16G>T, XM_017019830.2:c.-16G>T, XM_017019830.1:c.-16G>T, NR_036435.2:n.68G>T, NR_036435.1:n.145G>T, NR_036434.2:n.68G>T, NR_036434.1:n.145G>T, NR_036436.2:n.68G>T, NR_036436.1:n.145G>T, NM_198261.2:c.-293G>T, NM_198262.2:c.-790G>T, NM_198263.2:c.-16G>T, NM_198261.1:c.-293G>T, NM_198262.1:c.-790G>T, NM_198263.1:c.-16G>T, XR_007063115.1:n.68G>T, XR_007063114.1:n.68G>T, XM_047429373.1:c.-16G>T

Select item 149018125019.

rs1490181250 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:122523757 (GRCh38)
12:123008304 (GRCh37)
Canonical SPDI:: NC_000012.12:122523756:A:G
Gene:: RSRC2 (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=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.122523757A>G, NC_000012.11:g.123008304A>G, NG_046952.1:g.1509A>G

Select item 149013212220.

rs1490132122 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:122527737 (GRCh38)
12:123012284 (GRCh37)
Canonical SPDI:: NC_000012.12:122527736:C:T
Gene:: KNTC1 (Varview), RSRC2 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
HGVS:: NC_000012.12:g.122527737C>T, NC_000012.11:g.123012284C>T, NG_046952.1:g.5489C>T

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 1000

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity