Links from Gene
Items: 1 to 20 of 1000
1.
rs1491579300 has merged into rs35697234 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTT>-,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 9:105279331
(GRCh38)
9:108041612
(GRCh37)
- Canonical SPDI:
- NC_000009.12:105279317:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000009.12:105279317:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000009.12:105279317:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000009.12:105279317:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000009.12:105279317:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000009.12:105279317:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000009.12:105279317:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000009.12:105279317:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:105279317:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:105279317:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- SLC44A1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.010067/6
(NorthernSweden)
- HGVS:
NC_000009.12:g.105279331_105279335del, NC_000009.12:g.105279333_105279335del, NC_000009.12:g.105279334_105279335del, NC_000009.12:g.105279335del, NC_000009.12:g.105279335dup, NC_000009.12:g.105279334_105279335dup, NC_000009.12:g.105279333_105279335dup, NC_000009.12:g.105279332_105279335dup, NC_000009.12:g.105279331_105279335dup, NC_000009.12:g.105279329_105279335dup, NC_000009.11:g.108041612_108041616del, NC_000009.11:g.108041614_108041616del, NC_000009.11:g.108041615_108041616del, NC_000009.11:g.108041616del, NC_000009.11:g.108041616dup, NC_000009.11:g.108041615_108041616dup, NC_000009.11:g.108041614_108041616dup, NC_000009.11:g.108041613_108041616dup, NC_000009.11:g.108041612_108041616dup, NC_000009.11:g.108041610_108041616dup
2.
rs1491571524 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 9:105390428
(GRCh38)
9:108152709
(GRCh37)
- Canonical SPDI:
- NC_000009.12:105390427:TA:
- Gene:
- SLC44A1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
- HGVS:
NC_000009.12:g.105390428_105390429del, NC_000009.11:g.108152709_108152710del, NM_080546.5:c.*1372_*1373del, NM_080546.4:c.*1372_*1373del, NM_080546.3:c.*1372_*1373del, XM_006717028.4:c.*1372_*1373del, XM_006717028.3:c.*1372_*1373del, XM_006717028.2:c.*1372_*1373del, XM_006717028.1:c.*1372_*1373del, NM_001286730.2:c.*516_*517del, NM_001286730.1:c.*516_*517del, XM_047423117.1:c.*1372_*1373del
3.
rs1491568768 has merged into rs34173274 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 9:105332126
(GRCh38)
9:108094407
(GRCh37)
- Canonical SPDI:
- NC_000009.12:105332118:TTTTTTTTTTTTTTTTTTT:TTTTTTT,NC_000009.12:105332118:TTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000009.12:105332118:TTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000009.12:105332118:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000009.12:105332118:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000009.12:105332118:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000009.12:105332118:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000009.12:105332118:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000009.12:105332118:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000009.12:105332118:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000009.12:105332118:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000009.12:105332118:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000009.12:105332118:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:105332118:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:105332118:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:105332118:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:105332118:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:105332118:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:105332118:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:105332118:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:105332118:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:105332118:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:105332118:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:105332118:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:105332118:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- SLC44A1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTT=0./0
(
ALFA)
-=0.01007/6
(NorthernSweden)
- HGVS:
NC_000009.12:g.105332126_105332137del, NC_000009.12:g.105332127_105332137del, NC_000009.12:g.105332128_105332137del, NC_000009.12:g.105332129_105332137del, NC_000009.12:g.105332130_105332137del, NC_000009.12:g.105332131_105332137del, NC_000009.12:g.105332132_105332137del, NC_000009.12:g.105332135_105332137del, NC_000009.12:g.105332136_105332137del, NC_000009.12:g.105332137del, NC_000009.12:g.105332137dup, NC_000009.12:g.105332136_105332137dup, NC_000009.12:g.105332135_105332137dup, NC_000009.12:g.105332134_105332137dup, NC_000009.12:g.105332133_105332137dup, NC_000009.12:g.105332132_105332137dup, NC_000009.12:g.105332131_105332137dup, NC_000009.12:g.105332130_105332137dup, NC_000009.12:g.105332129_105332137dup, NC_000009.12:g.105332128_105332137dup, NC_000009.12:g.105332127_105332137dup, NC_000009.12:g.105332126_105332137dup, NC_000009.12:g.105332125_105332137dup, NC_000009.12:g.105332124_105332137dup, NC_000009.12:g.105332137_105332138insTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.108094407_108094418del, NC_000009.11:g.108094408_108094418del, NC_000009.11:g.108094409_108094418del, NC_000009.11:g.108094410_108094418del, NC_000009.11:g.108094411_108094418del, NC_000009.11:g.108094412_108094418del, NC_000009.11:g.108094413_108094418del, NC_000009.11:g.108094416_108094418del, NC_000009.11:g.108094417_108094418del, NC_000009.11:g.108094418del, NC_000009.11:g.108094418dup, NC_000009.11:g.108094417_108094418dup, NC_000009.11:g.108094416_108094418dup, NC_000009.11:g.108094415_108094418dup, NC_000009.11:g.108094414_108094418dup, NC_000009.11:g.108094413_108094418dup, NC_000009.11:g.108094412_108094418dup, NC_000009.11:g.108094411_108094418dup, NC_000009.11:g.108094410_108094418dup, NC_000009.11:g.108094409_108094418dup, NC_000009.11:g.108094408_108094418dup, NC_000009.11:g.108094407_108094418dup, NC_000009.11:g.108094406_108094418dup, NC_000009.11:g.108094405_108094418dup, NC_000009.11:g.108094418_108094419insTTTTTTTTTTTTTTTTTTTTTT
4.
rs1491565881 has merged into rs75269488 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAA>-,A,AA,AAAA,AAAAA,AAAAAA
[Show Flanks]
- Chromosome:
- 9:105346006
(GRCh38)
9:108108287
(GRCh37)
- Canonical SPDI:
- NC_000009.12:105345992:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000009.12:105345992:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000009.12:105345992:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:105345992:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:105345992:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000009.12:105345992:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
- Gene:
- SLC44A1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
A=0.102231/394
(ALSPAC)
A=0.12082/448
(TWINSUK)
-=0.271565/1360
(1000Genomes)
-=0.375/15
(GENOME_DK)
- HGVS:
NC_000009.12:g.105346006_105346008del, NC_000009.12:g.105346007_105346008del, NC_000009.12:g.105346008del, NC_000009.12:g.105346008dup, NC_000009.12:g.105346007_105346008dup, NC_000009.12:g.105346006_105346008dup, NC_000009.11:g.108108287_108108289del, NC_000009.11:g.108108288_108108289del, NC_000009.11:g.108108289del, NC_000009.11:g.108108289dup, NC_000009.11:g.108108288_108108289dup, NC_000009.11:g.108108287_108108289dup
5.
rs1491552633 has merged into rs34573916 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTT>-,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTCTTTTGTGGGTTATTTTTCTTTAATAATTTTTTTTTTTATTTTTATTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTAATTTTTATTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTGTGTGTAATATTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTGTTTTATTTAATTTTTTAATTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTGGTTTTTTTGATTTTTTAATTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTATTTTTTTTTTTTTTATTTTTTTATTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 9:105320302
(GRCh38)
9:108082583
(GRCh37)
- Canonical SPDI:
- NC_000009.12:105320292:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000009.12:105320292:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000009.12:105320292:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000009.12:105320292:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000009.12:105320292:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000009.12:105320292:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000009.12:105320292:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000009.12:105320292:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000009.12:105320292:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000009.12:105320292:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTCTTTTGTGGGTTATTTTTCTTTAATAATTTTTTTTTTTATTTTTATTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:105320292:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:105320292:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:105320292:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:105320292:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:105320292:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:105320292:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTATTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:105320292:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTGTGTGTAATATTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:105320292:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTATTTAATTTTTTAATTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:105320292:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:105320292:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTTTTTTTGATTTTTTAATTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:105320292:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:105320292:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:105320292:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTATTTTTTTTTTTTTTATTTTTTTATTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:105320292:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTT,NC_000009.12:105320292:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:105320292:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- SLC44A1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
-=0.45/18
(GENOME_DK)
- HGVS:
NC_000009.12:g.105320302_105320313del, NC_000009.12:g.105320305_105320313del, NC_000009.12:g.105320307_105320313del, NC_000009.12:g.105320308_105320313del, NC_000009.12:g.105320309_105320313del, NC_000009.12:g.105320310_105320313del, NC_000009.12:g.105320311_105320313del, NC_000009.12:g.105320312_105320313del, NC_000009.12:g.105320313del, NC_000009.12:g.105320293_105320313T[21]CTTTTGTGGGTTATTTTTCTTTAATAATTTTTTTTTTTATTTTTATTTTTTTTTTTTTTTTTTTTTT[1], NC_000009.12:g.105320313dup, NC_000009.12:g.105320312_105320313dup, NC_000009.12:g.105320311_105320313dup, NC_000009.12:g.105320309_105320313dup, NC_000009.12:g.105320308_105320313dup, NC_000009.12:g.105320293_105320313T[27]AATTTTTATTTTTTTTTTTTTTTTTTTTTTT[1], NC_000009.12:g.105320293_105320313T[27]GT[3]AATATTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTT[1], NC_000009.12:g.105320293_105320313T[27]GTTTTATTTAATTTTTTAATTTTTTTTTTTTTTTTTTTTTT[1], NC_000009.12:g.105320307_105320313dup, NC_000009.12:g.105320293_105320313T[29]GGTTTTTTTGATTTTTTAATTTTTTTTTTTTTTTTTTTTTT[1], NC_000009.12:g.105320305_105320313dup, NC_000009.12:g.105320293_105320313T[32]ATTTTTTTTTTTTTTTTTTTTTT[1], NC_000009.12:g.105320293_105320313T[39]CTTTTATTTTTTTTTTTTTTATTTTTTTATTTTTTTTTTTTTTTTTTTTTT[1], NC_000009.12:g.105320293_105320313T[44]ATTTTTTTTTTTTTTTTTTTTT[1], NC_000009.12:g.105320293_105320313T[45]ATTTTTTTTTTTTTTTTTTTTTTT[1], NC_000009.12:g.105320313_105320314insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.108082583_108082594del, NC_000009.11:g.108082586_108082594del, NC_000009.11:g.108082588_108082594del, NC_000009.11:g.108082589_108082594del, NC_000009.11:g.108082590_108082594del, NC_000009.11:g.108082591_108082594del, NC_000009.11:g.108082592_108082594del, NC_000009.11:g.108082593_108082594del, NC_000009.11:g.108082594del, NC_000009.11:g.108082574_108082594T[21]CTTTTGTGGGTTATTTTTCTTTAATAATTTTTTTTTTTATTTTTATTTTTTTTTTTTTTTTTTTTTT[1], NC_000009.11:g.108082594dup, NC_000009.11:g.108082593_108082594dup, NC_000009.11:g.108082592_108082594dup, NC_000009.11:g.108082590_108082594dup, NC_000009.11:g.108082589_108082594dup, NC_000009.11:g.108082574_108082594T[27]AATTTTTATTTTTTTTTTTTTTTTTTTTTTT[1], NC_000009.11:g.108082574_108082594T[27]GT[3]AATATTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTT[1], NC_000009.11:g.108082574_108082594T[27]GTTTTATTTAATTTTTTAATTTTTTTTTTTTTTTTTTTTTT[1], NC_000009.11:g.108082588_108082594dup, NC_000009.11:g.108082574_108082594T[29]GGTTTTTTTGATTTTTTAATTTTTTTTTTTTTTTTTTTTTT[1], NC_000009.11:g.108082586_108082594dup, NC_000009.11:g.108082574_108082594T[32]ATTTTTTTTTTTTTTTTTTTTTT[1], NC_000009.11:g.108082574_108082594T[39]CTTTTATTTTTTTTTTTTTTATTTTTTTATTTTTTTTTTTTTTTTTTTTTT[1], NC_000009.11:g.108082574_108082594T[44]ATTTTTTTTTTTTTTTTTTTTT[1], NC_000009.11:g.108082574_108082594T[45]ATTTTTTTTTTTTTTTTTTTTTTT[1], NC_000009.11:g.108082594_108082595insTTTTTTTTTTTTTTTTTTTTTTTTT
6.
rs1491525859 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 9:105351615
(GRCh38)
9:108113897
(GRCh37)
- Canonical SPDI:
- NC_000009.12:105351615::G
- Gene:
- SLC44A1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
G=0.002018/213
(GnomAD)
G=0.011086/185
(TOMMO)
G=0.012048/22
(Korea1K)
- HGVS:
7.
rs1491521765 has merged into rs748755778 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTT>-,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTAAATAAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 9:105305853
(GRCh38)
9:108068134
(GRCh37)
- Canonical SPDI:
- NC_000009.12:105305843:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000009.12:105305843:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000009.12:105305843:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000009.12:105305843:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000009.12:105305843:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000009.12:105305843:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000009.12:105305843:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000009.12:105305843:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000009.12:105305843:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000009.12:105305843:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:105305843:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:105305843:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:105305843:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:105305843:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:105305843:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTAAATAAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:105305843:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:105305843:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:105305843:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:105305843:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- SLC44A1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0./0
(
ALFA)
-=0.000083/22
(TOPMED)
-=0.025/1
(GENOME_DK)
-=0.236118/910
(ALSPAC)
- HGVS:
NC_000009.12:g.105305853_105305867del, NC_000009.12:g.105305857_105305867del, NC_000009.12:g.105305858_105305867del, NC_000009.12:g.105305860_105305867del, NC_000009.12:g.105305861_105305867del, NC_000009.12:g.105305862_105305867del, NC_000009.12:g.105305863_105305867del, NC_000009.12:g.105305864_105305867del, NC_000009.12:g.105305865_105305867del, NC_000009.12:g.105305866_105305867del, NC_000009.12:g.105305867del, NC_000009.12:g.105305867dup, NC_000009.12:g.105305866_105305867dup, NC_000009.12:g.105305865_105305867dup, NC_000009.12:g.105305844_105305867T[27]AAATAAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000009.12:g.105305864_105305867dup, NC_000009.12:g.105305863_105305867dup, NC_000009.12:g.105305862_105305867dup, NC_000009.12:g.105305861_105305867dup, NC_000009.11:g.108068134_108068148del, NC_000009.11:g.108068138_108068148del, NC_000009.11:g.108068139_108068148del, NC_000009.11:g.108068141_108068148del, NC_000009.11:g.108068142_108068148del, NC_000009.11:g.108068143_108068148del, NC_000009.11:g.108068144_108068148del, NC_000009.11:g.108068145_108068148del, NC_000009.11:g.108068146_108068148del, NC_000009.11:g.108068147_108068148del, NC_000009.11:g.108068148del, NC_000009.11:g.108068148dup, NC_000009.11:g.108068147_108068148dup, NC_000009.11:g.108068146_108068148dup, NC_000009.11:g.108068125_108068148T[27]AAATAAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000009.11:g.108068145_108068148dup, NC_000009.11:g.108068144_108068148dup, NC_000009.11:g.108068143_108068148dup, NC_000009.11:g.108068142_108068148dup
8.
rs1491513670 has merged into rs748755778 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTT>-,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTAAATAAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 9:105305853
(GRCh38)
9:108068134
(GRCh37)
- Canonical SPDI:
- NC_000009.12:105305843:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000009.12:105305843:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000009.12:105305843:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000009.12:105305843:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000009.12:105305843:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000009.12:105305843:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000009.12:105305843:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000009.12:105305843:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000009.12:105305843:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000009.12:105305843:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:105305843:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:105305843:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:105305843:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:105305843:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:105305843:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTAAATAAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:105305843:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:105305843:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:105305843:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:105305843:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- SLC44A1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0./0
(
ALFA)
-=0.000083/22
(TOPMED)
-=0.025/1
(GENOME_DK)
-=0.236118/910
(ALSPAC)
- HGVS:
NC_000009.12:g.105305853_105305867del, NC_000009.12:g.105305857_105305867del, NC_000009.12:g.105305858_105305867del, NC_000009.12:g.105305860_105305867del, NC_000009.12:g.105305861_105305867del, NC_000009.12:g.105305862_105305867del, NC_000009.12:g.105305863_105305867del, NC_000009.12:g.105305864_105305867del, NC_000009.12:g.105305865_105305867del, NC_000009.12:g.105305866_105305867del, NC_000009.12:g.105305867del, NC_000009.12:g.105305867dup, NC_000009.12:g.105305866_105305867dup, NC_000009.12:g.105305865_105305867dup, NC_000009.12:g.105305844_105305867T[27]AAATAAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000009.12:g.105305864_105305867dup, NC_000009.12:g.105305863_105305867dup, NC_000009.12:g.105305862_105305867dup, NC_000009.12:g.105305861_105305867dup, NC_000009.11:g.108068134_108068148del, NC_000009.11:g.108068138_108068148del, NC_000009.11:g.108068139_108068148del, NC_000009.11:g.108068141_108068148del, NC_000009.11:g.108068142_108068148del, NC_000009.11:g.108068143_108068148del, NC_000009.11:g.108068144_108068148del, NC_000009.11:g.108068145_108068148del, NC_000009.11:g.108068146_108068148del, NC_000009.11:g.108068147_108068148del, NC_000009.11:g.108068148del, NC_000009.11:g.108068148dup, NC_000009.11:g.108068147_108068148dup, NC_000009.11:g.108068146_108068148dup, NC_000009.11:g.108068125_108068148T[27]AAATAAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000009.11:g.108068145_108068148dup, NC_000009.11:g.108068144_108068148dup, NC_000009.11:g.108068143_108068148dup, NC_000009.11:g.108068142_108068148dup
10.
rs1491497791 has merged into rs35530318 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 9:105261786
(GRCh38)
9:108024067
(GRCh37)
- Canonical SPDI:
- NC_000009.12:105261775:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000009.12:105261775:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000009.12:105261775:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000009.12:105261775:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000009.12:105261775:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000009.12:105261775:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000009.12:105261775:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000009.12:105261775:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000009.12:105261775:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000009.12:105261775:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000009.12:105261775:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000009.12:105261775:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000009.12:105261775:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:105261775:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:105261775:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:105261775:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:105261775:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:105261775:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:105261775:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:105261775:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:105261775:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- SLC44A1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000009.12:g.105261786_105261797del, NC_000009.12:g.105261787_105261797del, NC_000009.12:g.105261788_105261797del, NC_000009.12:g.105261789_105261797del, NC_000009.12:g.105261790_105261797del, NC_000009.12:g.105261791_105261797del, NC_000009.12:g.105261792_105261797del, NC_000009.12:g.105261793_105261797del, NC_000009.12:g.105261794_105261797del, NC_000009.12:g.105261795_105261797del, NC_000009.12:g.105261796_105261797del, NC_000009.12:g.105261797del, NC_000009.12:g.105261797dup, NC_000009.12:g.105261796_105261797dup, NC_000009.12:g.105261795_105261797dup, NC_000009.12:g.105261794_105261797dup, NC_000009.12:g.105261793_105261797dup, NC_000009.12:g.105261792_105261797dup, NC_000009.12:g.105261791_105261797dup, NC_000009.12:g.105261790_105261797dup, NC_000009.12:g.105261788_105261797dup, NC_000009.11:g.108024067_108024078del, NC_000009.11:g.108024068_108024078del, NC_000009.11:g.108024069_108024078del, NC_000009.11:g.108024070_108024078del, NC_000009.11:g.108024071_108024078del, NC_000009.11:g.108024072_108024078del, NC_000009.11:g.108024073_108024078del, NC_000009.11:g.108024074_108024078del, NC_000009.11:g.108024075_108024078del, NC_000009.11:g.108024076_108024078del, NC_000009.11:g.108024077_108024078del, NC_000009.11:g.108024078del, NC_000009.11:g.108024078dup, NC_000009.11:g.108024077_108024078dup, NC_000009.11:g.108024076_108024078dup, NC_000009.11:g.108024075_108024078dup, NC_000009.11:g.108024074_108024078dup, NC_000009.11:g.108024073_108024078dup, NC_000009.11:g.108024072_108024078dup, NC_000009.11:g.108024071_108024078dup, NC_000009.11:g.108024069_108024078dup, XM_006717028.4:c.-11758_-11747del, XM_006717028.4:c.-11757_-11747del, XM_006717028.4:c.-11756_-11747del, XM_006717028.4:c.-11755_-11747del, XM_006717028.4:c.-11754_-11747del, XM_006717028.4:c.-11753_-11747del, XM_006717028.4:c.-11752_-11747del, XM_006717028.4:c.-11751_-11747del, XM_006717028.4:c.-11750_-11747del, XM_006717028.4:c.-11749_-11747del, XM_006717028.4:c.-11748_-11747del, XM_006717028.4:c.-11747del, XM_006717028.4:c.-11747dup, XM_006717028.4:c.-11748_-11747dup, XM_006717028.4:c.-11749_-11747dup, XM_006717028.4:c.-11750_-11747dup, XM_006717028.4:c.-11751_-11747dup, XM_006717028.4:c.-11752_-11747dup, XM_006717028.4:c.-11753_-11747dup, XM_006717028.4:c.-11754_-11747dup, XM_006717028.4:c.-11756_-11747dup
11.
rs1491490098 has merged into rs764643373 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,AACAAA
[Show Flanks]
- Chromosome:
- 9:105351600
(GRCh38)
9:108113881
(GRCh37)
- Canonical SPDI:
- NC_000009.12:105351598:AAA:A,NC_000009.12:105351598:AAA:AAACAAA
- Gene:
- SLC44A1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.00219/26
(
ALFA)
-=0.00505/3
(NorthernSweden)
-=0.00618/513
(GnomAD)
-=0.00662/111
(TOMMO)
AAAC=0.03477/134
(ALSPAC)
AAAC=0.03641/135
(TWINSUK)
- HGVS:
12.
rs1491489357 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 9:105336134
(GRCh38)
9:108098415
(GRCh37)
- Canonical SPDI:
- NC_000009.12:105336133:AT:
- Gene:
- SLC44A1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000025/3
(GnomAD)
- HGVS:
13.
rs1491480559 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GGTGGTCT
[Show Flanks]
- Chromosome:
- 9:105324286
(GRCh38)
9:108086568
(GRCh37)
- Canonical SPDI:
- NC_000009.12:105324286:GTGGTCT:GTGGTCTGGTGGTCT
- Gene:
- SLC44A1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
GTGGTCTGGTGGTCT=0./0
(
ALFA)
GTGGTCTG=0.000021/3
(GnomAD)
- HGVS:
14.
rs1491438705 has merged into rs1453555141 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,AAAA,AAAAAA
[Show Flanks]
- Chromosome:
- 9:105351612
(GRCh38)
9:108113893
(GRCh37)
- Canonical SPDI:
- NC_000009.12:105351610:AAA:A,NC_000009.12:105351610:AAA:AAAAA,NC_000009.12:105351610:AAA:AAAAAAA
- Gene:
- SLC44A1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAA=0./0
(
ALFA)
-=0.00028/5
(TOMMO)
- HGVS:
15.
rs1491434279 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TG>-
[Show Flanks]
- Chromosome:
- 9:105324288
(GRCh38)
9:108086569
(GRCh37)
- Canonical SPDI:
- NC_000009.12:105324285:TGTG:TG
- Gene:
- SLC44A1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TGTG=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
- HGVS:
16.
rs1491423285 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 9:105279317
(GRCh38)
9:108041598
(GRCh37)
- Canonical SPDI:
- NC_000009.12:105279316:CT:
- Gene:
- SLC44A1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000015/2
(GnomAD)
- HGVS:
17.
rs1491408139 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 9:105387038
(GRCh38)
9:108149319
(GRCh37)
- Canonical SPDI:
- NC_000009.12:105387037:CA:
- Gene:
- SLC44A1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency
- MAF:
-=0.002/47
(TOMMO)
- HGVS:
18.
rs1491403364 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C,G
[Show Flanks]
- Chromosome:
- 9:105351549
(GRCh38)
9:108113831
(GRCh37)
- Canonical SPDI:
- NC_000009.12:105351549::C,NC_000009.12:105351549::G
- Gene:
- SLC44A1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
G=0.00197/33
(TOMMO)
G=0.03061/18
(NorthernSweden)
- HGVS:
19.
rs1491378508 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CT
[Show Flanks]
- Chromosome:
- 9:105246374
(GRCh38)
9:108008656
(GRCh37)
- Canonical SPDI:
- NC_000009.12:105246374:T:TCT
- Gene:
- SLC44A1 (Varview), LOC112268038 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TCT=0./0
(
ALFA)
TC=0.00024/20
(GnomAD)
- HGVS:
20.
rs1491352806 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-
[Show Flanks]
- Chromosome:
- 9:105351616
(GRCh38)
9:108113897
(GRCh37)
- Canonical SPDI:
- NC_000009.12:105351614:AAA:A
- Gene:
- SLC44A1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.00017/2
(
ALFA)
-=0.00076/73
(GnomAD)
- HGVS: