Links from Gene
Items: 1 to 20 of 11539
2.
rs1491528227 has merged into rs375196464 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT
[Show Flanks]
- Chromosome:
- 8:41295755
(GRCh38)
8:41153274
(GRCh37)
- Canonical SPDI:
- NC_000008.11:41295744:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000008.11:41295744:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000008.11:41295744:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000008.11:41295744:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000008.11:41295744:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000008.11:41295744:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000008.11:41295744:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT
- Gene:
- SFRP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTT=0./0
(
ALFA)
T=0.17153/859
(1000Genomes)
T=0.17644/680
(ALSPAC)
T=0.18177/674
(TWINSUK)
- HGVS:
NC_000008.11:g.41295755_41295757del, NC_000008.11:g.41295756_41295757del, NC_000008.11:g.41295757del, NC_000008.11:g.41295757dup, NC_000008.11:g.41295756_41295757dup, NC_000008.11:g.41295755_41295757dup, NC_000008.11:g.41295754_41295757dup, NC_000008.10:g.41153274_41153276del, NC_000008.10:g.41153275_41153276del, NC_000008.10:g.41153276del, NC_000008.10:g.41153276dup, NC_000008.10:g.41153275_41153276dup, NC_000008.10:g.41153274_41153276dup, NC_000008.10:g.41153273_41153276dup
5.
rs1491166160 has merged into rs397893046 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 8:41288541
(GRCh38)
8:41146060
(GRCh37)
- Canonical SPDI:
- NC_000008.11:41288530:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000008.11:41288530:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000008.11:41288530:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000008.11:41288530:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000008.11:41288530:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000008.11:41288530:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:41288530:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000008.11:41288530:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000008.11:41288530:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000008.11:41288530:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000008.11:41288530:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000008.11:41288530:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000008.11:41288530:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:41288530:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:41288530:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:41288530:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:41288530:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:41288530:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:41288530:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:41288530:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:41288530:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:41288530:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:41288530:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:41288530:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:41288530:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:41288530:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:41288530:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:41288530:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:41288530:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:41288530:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:41288530:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:41288530:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:41288530:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:41288530:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:41288530:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:41288530:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:41288530:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:41288530:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:41288530:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- SFRP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAA=0./0
(
ALFA)
AAAAAAAAA=0./0
(GENOME_DK)
- HGVS:
NC_000008.11:g.41288541_41288568del, NC_000008.11:g.41288542_41288568del, NC_000008.11:g.41288543_41288568del, NC_000008.11:g.41288544_41288568del, NC_000008.11:g.41288545_41288568del, NC_000008.11:g.41288546_41288568del, NC_000008.11:g.41288547_41288568del, NC_000008.11:g.41288548_41288568del, NC_000008.11:g.41288549_41288568del, NC_000008.11:g.41288550_41288568del, NC_000008.11:g.41288551_41288568del, NC_000008.11:g.41288552_41288568del, NC_000008.11:g.41288553_41288568del, NC_000008.11:g.41288554_41288568del, NC_000008.11:g.41288555_41288568del, NC_000008.11:g.41288556_41288568del, NC_000008.11:g.41288557_41288568del, NC_000008.11:g.41288558_41288568del, NC_000008.11:g.41288559_41288568del, NC_000008.11:g.41288560_41288568del, NC_000008.11:g.41288561_41288568del, NC_000008.11:g.41288562_41288568del, NC_000008.11:g.41288563_41288568del, NC_000008.11:g.41288564_41288568del, NC_000008.11:g.41288565_41288568del, NC_000008.11:g.41288566_41288568del, NC_000008.11:g.41288567_41288568del, NC_000008.11:g.41288568del, NC_000008.11:g.41288568dup, NC_000008.11:g.41288567_41288568dup, NC_000008.11:g.41288566_41288568dup, NC_000008.11:g.41288565_41288568dup, NC_000008.11:g.41288564_41288568dup, NC_000008.11:g.41288563_41288568dup, NC_000008.11:g.41288562_41288568dup, NC_000008.11:g.41288561_41288568dup, NC_000008.11:g.41288560_41288568dup, NC_000008.11:g.41288558_41288568dup, NC_000008.11:g.41288553_41288568dup, NC_000008.10:g.41146060_41146087del, NC_000008.10:g.41146061_41146087del, NC_000008.10:g.41146062_41146087del, NC_000008.10:g.41146063_41146087del, NC_000008.10:g.41146064_41146087del, NC_000008.10:g.41146065_41146087del, NC_000008.10:g.41146066_41146087del, NC_000008.10:g.41146067_41146087del, NC_000008.10:g.41146068_41146087del, NC_000008.10:g.41146069_41146087del, NC_000008.10:g.41146070_41146087del, NC_000008.10:g.41146071_41146087del, NC_000008.10:g.41146072_41146087del, NC_000008.10:g.41146073_41146087del, NC_000008.10:g.41146074_41146087del, NC_000008.10:g.41146075_41146087del, NC_000008.10:g.41146076_41146087del, NC_000008.10:g.41146077_41146087del, NC_000008.10:g.41146078_41146087del, NC_000008.10:g.41146079_41146087del, NC_000008.10:g.41146080_41146087del, NC_000008.10:g.41146081_41146087del, NC_000008.10:g.41146082_41146087del, NC_000008.10:g.41146083_41146087del, NC_000008.10:g.41146084_41146087del, NC_000008.10:g.41146085_41146087del, NC_000008.10:g.41146086_41146087del, NC_000008.10:g.41146087del, NC_000008.10:g.41146087dup, NC_000008.10:g.41146086_41146087dup, NC_000008.10:g.41146085_41146087dup, NC_000008.10:g.41146084_41146087dup, NC_000008.10:g.41146083_41146087dup, NC_000008.10:g.41146082_41146087dup, NC_000008.10:g.41146081_41146087dup, NC_000008.10:g.41146080_41146087dup, NC_000008.10:g.41146079_41146087dup, NC_000008.10:g.41146077_41146087dup, NC_000008.10:g.41146072_41146087dup
6.
rs1491063872 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TCCCACATTGCTGGAGGGCCC,TCCCACATTGCTGGCGGGCCC
[Show Flanks]
- Chromosome:
- 8:41284377
(GRCh38)
8:41141897
(GRCh37)
- Canonical SPDI:
- NC_000008.11:41284377:CCC:CCCTCCCACATTGCTGGAGGGCCC,NC_000008.11:41284377:CCC:CCCTCCCACATTGCTGGCGGGCCC
- Gene:
- SFRP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCCTCCCACATTGCTGGAGGGCCC=0./0
(
ALFA)
CCCTCCCACATTGCTGGAGGG=0.02991/501
(TOMMO)
CCCTCCCACATTGCTGGAGGG=0.30252/1417
(GnomAD)
- HGVS:
7.
rs1491017538 has merged into rs33933653 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,A,AAA,AAAA,AAAAA,AAAAAAA
[Show Flanks]
- Chromosome:
- 8:41296520
(GRCh38)
8:41154039
(GRCh37)
- Canonical SPDI:
- NC_000008.11:41296506:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000008.11:41296506:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000008.11:41296506:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000008.11:41296506:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000008.11:41296506:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000008.11:41296506:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
- Gene:
- SFRP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAA=0./0
(
ALFA)
A=0.2694/1349
(1000Genomes)
- HGVS:
NC_000008.11:g.41296520_41296521del, NC_000008.11:g.41296521del, NC_000008.11:g.41296521dup, NC_000008.11:g.41296520_41296521dup, NC_000008.11:g.41296519_41296521dup, NC_000008.11:g.41296517_41296521dup, NC_000008.10:g.41154039_41154040del, NC_000008.10:g.41154040del, NC_000008.10:g.41154040dup, NC_000008.10:g.41154039_41154040dup, NC_000008.10:g.41154038_41154040dup, NC_000008.10:g.41154036_41154040dup
8.
rs1490991363 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 8:41297595
(GRCh38)
8:41155114
(GRCh37)
- Canonical SPDI:
- NC_000008.11:41297594:A:C,NC_000008.11:41297594:A:G
- Gene:
- SFRP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
G=0.000011/3
(TOPMED)
- HGVS:
9.
rs1490961472 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 8:41266092
(GRCh38)
8:41123611
(GRCh37)
- Canonical SPDI:
- NC_000008.11:41266091:G:C
- Gene:
- SFRP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
C=0.000007/1
(GnomAD)
- HGVS:
10.
rs1490867440 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 8:41262190
(GRCh38)
8:41119709
(GRCh37)
- Canonical SPDI:
- NC_000008.11:41262189:G:A,NC_000008.11:41262189:G:C
- Gene:
- SFRP1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
12.
rs1490650941 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 8:41307062
(GRCh38)
8:41164581
(GRCh37)
- Canonical SPDI:
- NC_000008.11:41307061:C:T
- Gene:
- SFRP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
13.
rs1490620859 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 8:41306065
(GRCh38)
8:41163584
(GRCh37)
- Canonical SPDI:
- NC_000008.11:41306064:C:T
- Gene:
- SFRP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
15.
rs1490535548 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 8:41282512
(GRCh38)
8:41140031
(GRCh37)
- Canonical SPDI:
- NC_000008.11:41282511:C:T
- Gene:
- SFRP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
T=0.000007/1
(GnomAD)
- HGVS:
18.
rs1490271823 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 8:41305273
(GRCh38)
8:41162792
(GRCh37)
- Canonical SPDI:
- NC_000008.11:41305272:T:C
- Gene:
- SFRP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
19.
rs1490242241 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 8:41282886
(GRCh38)
8:41140405
(GRCh37)
- Canonical SPDI:
- NC_000008.11:41282885:A:G
- Gene:
- SFRP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
G=0.000007/1
(GnomAD)
- HGVS:
20.
rs1490194345 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 8:41298358
(GRCh38)
8:41155877
(GRCh37)
- Canonical SPDI:
- NC_000008.11:41298357:T:G
- Gene:
- SFRP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS: