Links from Nucleotide
Items: 1 to 20 of 16485
1.
rs1491565336 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-
[Show Flanks]
- Chromosome:
- 6:37698162
(GRCh38)
6:37665938
(GRCh37)
- Canonical SPDI:
- NC_000006.12:37698160:TTT:T
- Gene:
- MDGA1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
-=0.03915/22
(NorthernSweden)
-=0.04668/3436
(GnomAD)
-=0.13835/2121
(TOMMO)
- HGVS:
2.
rs1491539878 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T
[Show Flanks]
- Chromosome:
- 6:37698174
(GRCh38)
6:37665950
(GRCh37)
- Canonical SPDI:
- NC_000006.12:37698172:TTT:T,NC_000006.12:37698172:TTT:TT
- Gene:
- MDGA1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
-=0.01176/180
(TOMMO)
-=0.01457/421
(GnomAD)
- HGVS:
3.
rs1491497538 has merged into rs35594367 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ACACACACACACACACACACACACACACACACACACACACACACAC>-,AC,ACACAC,ACACACAC,ACACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC,ACACACACACACACACACACAC,ACACACACACACACACACACACAC,ACACACACACACACACACACACACAC,ACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC
[Show Flanks]
- Chromosome:
- 6:37664861
(GRCh38)
6:37632637
(GRCh37)
- Canonical SPDI:
- NC_000006.12:37664842:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACAC,NC_000006.12:37664842:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACAC,NC_000006.12:37664842:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACAC,NC_000006.12:37664842:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACAC,NC_000006.12:37664842:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACAC,NC_000006.12:37664842:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACAC,NC_000006.12:37664842:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACAC,NC_000006.12:37664842:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACAC,NC_000006.12:37664842:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACAC,NC_000006.12:37664842:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACAC,NC_000006.12:37664842:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:37664842:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:37664842:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:37664842:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:37664842:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:37664842:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:37664842:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:37664842:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:37664842:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:37664842:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:37664842:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:37664842:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:37664842:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:37664842:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:37664842:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:37664842:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:37664842:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:37664842:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:37664842:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:37664842:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:37664842:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:37664842:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:37664842:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:37664842:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:37664842:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:37664842:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:37664842:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:37664842:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:37664842:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:37664842:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC
- Gene:
- MDGA1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACACACACACACACAC=0./0
(
ALFA)
ACACACACACACACACAC=0./0
(GENOME_DK)
- HGVS:
NC_000006.12:g.37664843AC[9], NC_000006.12:g.37664843AC[10], NC_000006.12:g.37664843AC[12], NC_000006.12:g.37664843AC[13], NC_000006.12:g.37664843AC[14], NC_000006.12:g.37664843AC[15], NC_000006.12:g.37664843AC[16], NC_000006.12:g.37664843AC[17], NC_000006.12:g.37664843AC[18], NC_000006.12:g.37664843AC[19], NC_000006.12:g.37664843AC[20], NC_000006.12:g.37664843AC[21], NC_000006.12:g.37664843AC[22], NC_000006.12:g.37664843AC[23], NC_000006.12:g.37664843AC[24], NC_000006.12:g.37664843AC[25], NC_000006.12:g.37664843AC[26], NC_000006.12:g.37664843AC[27], NC_000006.12:g.37664843AC[28], NC_000006.12:g.37664843AC[29], NC_000006.12:g.37664843AC[30], NC_000006.12:g.37664843AC[31], NC_000006.12:g.37664843AC[33], NC_000006.12:g.37664843AC[34], NC_000006.12:g.37664843AC[35], NC_000006.12:g.37664843AC[36], NC_000006.12:g.37664843AC[37], NC_000006.12:g.37664843AC[38], NC_000006.12:g.37664843AC[39], NC_000006.12:g.37664843AC[40], NC_000006.12:g.37664843AC[41], NC_000006.12:g.37664843AC[42], NC_000006.12:g.37664843AC[43], NC_000006.12:g.37664843AC[44], NC_000006.12:g.37664843AC[45], NC_000006.12:g.37664843AC[46], NC_000006.12:g.37664843AC[47], NC_000006.12:g.37664843AC[50], NC_000006.12:g.37664843AC[52], NC_000006.12:g.37664843AC[53], NC_000006.11:g.37632619AC[9], NC_000006.11:g.37632619AC[10], NC_000006.11:g.37632619AC[12], NC_000006.11:g.37632619AC[13], NC_000006.11:g.37632619AC[14], NC_000006.11:g.37632619AC[15], NC_000006.11:g.37632619AC[16], NC_000006.11:g.37632619AC[17], NC_000006.11:g.37632619AC[18], NC_000006.11:g.37632619AC[19], NC_000006.11:g.37632619AC[20], NC_000006.11:g.37632619AC[21], NC_000006.11:g.37632619AC[22], NC_000006.11:g.37632619AC[23], NC_000006.11:g.37632619AC[24], NC_000006.11:g.37632619AC[25], NC_000006.11:g.37632619AC[26], NC_000006.11:g.37632619AC[27], NC_000006.11:g.37632619AC[28], NC_000006.11:g.37632619AC[29], NC_000006.11:g.37632619AC[30], NC_000006.11:g.37632619AC[31], NC_000006.11:g.37632619AC[33], NC_000006.11:g.37632619AC[34], NC_000006.11:g.37632619AC[35], NC_000006.11:g.37632619AC[36], NC_000006.11:g.37632619AC[37], NC_000006.11:g.37632619AC[38], NC_000006.11:g.37632619AC[39], NC_000006.11:g.37632619AC[40], NC_000006.11:g.37632619AC[41], NC_000006.11:g.37632619AC[42], NC_000006.11:g.37632619AC[43], NC_000006.11:g.37632619AC[44], NC_000006.11:g.37632619AC[45], NC_000006.11:g.37632619AC[46], NC_000006.11:g.37632619AC[47], NC_000006.11:g.37632619AC[50], NC_000006.11:g.37632619AC[52], NC_000006.11:g.37632619AC[53], NG_051764.1:g.38085GT[9], NG_051764.1:g.38085GT[10], NG_051764.1:g.38085GT[12], NG_051764.1:g.38085GT[13], NG_051764.1:g.38085GT[14], NG_051764.1:g.38085GT[15], NG_051764.1:g.38085GT[16], NG_051764.1:g.38085GT[17], NG_051764.1:g.38085GT[18], NG_051764.1:g.38085GT[19], NG_051764.1:g.38085GT[20], NG_051764.1:g.38085GT[21], NG_051764.1:g.38085GT[22], NG_051764.1:g.38085GT[23], NG_051764.1:g.38085GT[24], NG_051764.1:g.38085GT[25], NG_051764.1:g.38085GT[26], NG_051764.1:g.38085GT[27], NG_051764.1:g.38085GT[28], NG_051764.1:g.38085GT[29], NG_051764.1:g.38085GT[30], NG_051764.1:g.38085GT[31], NG_051764.1:g.38085GT[33], NG_051764.1:g.38085GT[34], NG_051764.1:g.38085GT[35], NG_051764.1:g.38085GT[36], NG_051764.1:g.38085GT[37], NG_051764.1:g.38085GT[38], NG_051764.1:g.38085GT[39], NG_051764.1:g.38085GT[40], NG_051764.1:g.38085GT[41], NG_051764.1:g.38085GT[42], NG_051764.1:g.38085GT[43], NG_051764.1:g.38085GT[44], NG_051764.1:g.38085GT[45], NG_051764.1:g.38085GT[46], NG_051764.1:g.38085GT[47], NG_051764.1:g.38085GT[50], NG_051764.1:g.38085GT[52], NG_051764.1:g.38085GT[53]
4.
rs1491471574 has merged into rs61046567 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CACACACACACACACACACA>-,CA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACACACACA
[Show Flanks]
- Chromosome:
- 6:37664616
(GRCh38)
6:37632392
(GRCh37)
- Canonical SPDI:
- NC_000006.12:37664600:ACACACACACACACACACACACACACACACACACA:ACACACACACACACA,NC_000006.12:37664600:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACA,NC_000006.12:37664600:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000006.12:37664600:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000006.12:37664600:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000006.12:37664600:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000006.12:37664600:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000006.12:37664600:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000006.12:37664600:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA,NC_000006.12:37664600:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA,NC_000006.12:37664600:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA,NC_000006.12:37664600:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA,NC_000006.12:37664600:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA,NC_000006.12:37664600:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACA,NC_000006.12:37664600:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACA,NC_000006.12:37664600:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000006.12:37664600:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000006.12:37664600:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000006.12:37664600:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000006.12:37664600:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000006.12:37664600:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000006.12:37664600:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000006.12:37664600:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000006.12:37664600:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000006.12:37664600:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000006.12:37664600:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA
- Gene:
- MDGA1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACACACACACACA=0./0
(
ALFA)
- HGVS:
NC_000006.12:g.37664602CA[7], NC_000006.12:g.37664602CA[8], NC_000006.12:g.37664602CA[10], NC_000006.12:g.37664602CA[11], NC_000006.12:g.37664602CA[12], NC_000006.12:g.37664602CA[13], NC_000006.12:g.37664602CA[14], NC_000006.12:g.37664602CA[15], NC_000006.12:g.37664602CA[16], NC_000006.12:g.37664602CA[18], NC_000006.12:g.37664602CA[19], NC_000006.12:g.37664602CA[20], NC_000006.12:g.37664602CA[21], NC_000006.12:g.37664602CA[22], NC_000006.12:g.37664602CA[23], NC_000006.12:g.37664602CA[24], NC_000006.12:g.37664602CA[25], NC_000006.12:g.37664602CA[26], NC_000006.12:g.37664602CA[27], NC_000006.12:g.37664602CA[28], NC_000006.12:g.37664602CA[29], NC_000006.12:g.37664602CA[30], NC_000006.12:g.37664602CA[31], NC_000006.12:g.37664602CA[32], NC_000006.12:g.37664602CA[33], NC_000006.12:g.37664602CA[34], NC_000006.11:g.37632378CA[7], NC_000006.11:g.37632378CA[8], NC_000006.11:g.37632378CA[10], NC_000006.11:g.37632378CA[11], NC_000006.11:g.37632378CA[12], NC_000006.11:g.37632378CA[13], NC_000006.11:g.37632378CA[14], NC_000006.11:g.37632378CA[15], NC_000006.11:g.37632378CA[16], NC_000006.11:g.37632378CA[18], NC_000006.11:g.37632378CA[19], NC_000006.11:g.37632378CA[20], NC_000006.11:g.37632378CA[21], NC_000006.11:g.37632378CA[22], NC_000006.11:g.37632378CA[23], NC_000006.11:g.37632378CA[24], NC_000006.11:g.37632378CA[25], NC_000006.11:g.37632378CA[26], NC_000006.11:g.37632378CA[27], NC_000006.11:g.37632378CA[28], NC_000006.11:g.37632378CA[29], NC_000006.11:g.37632378CA[30], NC_000006.11:g.37632378CA[31], NC_000006.11:g.37632378CA[32], NC_000006.11:g.37632378CA[33], NC_000006.11:g.37632378CA[34], NG_051764.1:g.38357GT[7], NG_051764.1:g.38357GT[8], NG_051764.1:g.38357GT[10], NG_051764.1:g.38357GT[11], NG_051764.1:g.38357GT[12], NG_051764.1:g.38357GT[13], NG_051764.1:g.38357GT[14], NG_051764.1:g.38357GT[15], NG_051764.1:g.38357GT[16], NG_051764.1:g.38357GT[18], NG_051764.1:g.38357GT[19], NG_051764.1:g.38357GT[20], NG_051764.1:g.38357GT[21], NG_051764.1:g.38357GT[22], NG_051764.1:g.38357GT[23], NG_051764.1:g.38357GT[24], NG_051764.1:g.38357GT[25], NG_051764.1:g.38357GT[26], NG_051764.1:g.38357GT[27], NG_051764.1:g.38357GT[28], NG_051764.1:g.38357GT[29], NG_051764.1:g.38357GT[30], NG_051764.1:g.38357GT[31], NG_051764.1:g.38357GT[32], NG_051764.1:g.38357GT[33], NG_051764.1:g.38357GT[34]
6.
rs1491446965 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AA>-
[Show Flanks]
- Chromosome:
- 6:37640854
(GRCh38)
6:37608630
(GRCh37)
- Canonical SPDI:
- NC_000006.12:37640853:AA:
- Gene:
- MDGA1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.000071/1
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
7.
rs1491424591 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G,GCTCT,T,TCT,TCTCT,TCTCTCTCCT,TTT,TTTCT
[Show Flanks]
- Chromosome:
- 6:37698244
(GRCh38)
6:37666021
(GRCh37)
- Canonical SPDI:
- NC_000006.12:37698244::G,NC_000006.12:37698244::GCTCT,NC_000006.12:37698244::T,NC_000006.12:37698244::TCT,NC_000006.12:37698244::TCTCT,NC_000006.12:37698244::TCTCTCTCCT,NC_000006.12:37698244::TTT,NC_000006.12:37698244::TTTCT
- Gene:
- MDGA1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000006.12:g.37698244_37698245insG, NC_000006.12:g.37698244_37698245insGCTCT, NC_000006.12:g.37698244_37698245insT, NC_000006.12:g.37698244_37698245insTCT, NC_000006.12:g.37698244_37698245insTCTCT, NC_000006.12:g.37698244_37698245insTCTCTCTCCT, NC_000006.12:g.37698244_37698245insTTT, NC_000006.12:g.37698244_37698245insTTTCT, NC_000006.11:g.37666020_37666021insG, NC_000006.11:g.37666020_37666021insGCTCT, NC_000006.11:g.37666020_37666021insT, NC_000006.11:g.37666020_37666021insTCT, NC_000006.11:g.37666020_37666021insTCTCT, NC_000006.11:g.37666020_37666021insTCTCTCTCCT, NC_000006.11:g.37666020_37666021insTTT, NC_000006.11:g.37666020_37666021insTTTCT, NG_051764.1:g.4746_4747insC, NG_051764.1:g.4746_4747insAGAGC, NG_051764.1:g.4746_4747insA, NG_051764.1:g.4746_4747insAGA, NG_051764.1:g.4746_4747insAGAGA, NG_051764.1:g.4746_4747insAGGAGAGAGA, NG_051764.1:g.4746_4747insAAA, NG_051764.1:g.4746_4747insAGAAA
8.
rs1491393682 has merged into rs61618174 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CC>-,C,CCC,CCCC,CCCCC
[Show Flanks]
- Chromosome:
- 6:37681007
(GRCh38)
6:37648783
(GRCh37)
- Canonical SPDI:
- NC_000006.12:37680996:CCCCCCCCCCCC:CCCCCCCCCC,NC_000006.12:37680996:CCCCCCCCCCCC:CCCCCCCCCCC,NC_000006.12:37680996:CCCCCCCCCCCC:CCCCCCCCCCCCC,NC_000006.12:37680996:CCCCCCCCCCCC:CCCCCCCCCCCCCC,NC_000006.12:37680996:CCCCCCCCCCCC:CCCCCCCCCCCCCCC
- Gene:
- MDGA1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCCCCCCCCCCCCCC=0./0
(
ALFA)
-=0.4411/2209
(1000Genomes)
C=0.475/19
(GENOME_DK)
- HGVS:
NC_000006.12:g.37681007_37681008del, NC_000006.12:g.37681008del, NC_000006.12:g.37681008dup, NC_000006.12:g.37681007_37681008dup, NC_000006.12:g.37681006_37681008dup, NC_000006.11:g.37648783_37648784del, NC_000006.11:g.37648784del, NC_000006.11:g.37648784dup, NC_000006.11:g.37648783_37648784dup, NC_000006.11:g.37648782_37648784dup, NG_051764.1:g.21993_21994del, NG_051764.1:g.21994del, NG_051764.1:g.21994dup, NG_051764.1:g.21993_21994dup, NG_051764.1:g.21992_21994dup
9.
rs1491376274 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C,CGC,CGCTCTCC,CTCTCGCTCTCC,CTCTCTCC
[Show Flanks]
- Chromosome:
- 6:37698256
(GRCh38)
6:37666033
(GRCh37)
- Canonical SPDI:
- NC_000006.12:37698256::C,NC_000006.12:37698256::CGC,NC_000006.12:37698256::CGCTCTCC,NC_000006.12:37698256::CTCTCGCTCTCC,NC_000006.12:37698256::CTCTCTCC
- Gene:
- MDGA1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CGC=0./0
(
ALFA)
CTCTCGCTCTCC=0.00031/5
(TOMMO)
- HGVS:
NC_000006.12:g.37698256_37698257insC, NC_000006.12:g.37698256_37698257insCGC, NC_000006.12:g.37698256_37698257insCGCTCTCC, NC_000006.12:g.37698256_37698257insCTCTCGCTCTCC, NC_000006.12:g.37698256_37698257insCTCTCTCC, NC_000006.11:g.37666032_37666033insC, NC_000006.11:g.37666032_37666033insCGC, NC_000006.11:g.37666032_37666033insCGCTCTCC, NC_000006.11:g.37666032_37666033insCTCTCGCTCTCC, NC_000006.11:g.37666032_37666033insCTCTCTCC, NG_051764.1:g.4734_4735insG, NG_051764.1:g.4734_4735insGCG, NG_051764.1:g.4734_4735insGGAGAGCG, NG_051764.1:g.4734_4735insGGAGAGCGAGAG, NG_051764.1:g.4734_4735insGGAGAGAG
10.
rs1491307815 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 6:37698161
(GRCh38)
6:37665938
(GRCh37)
- Canonical SPDI:
- NC_000006.12:37698161::C
- Gene:
- MDGA1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
C=0.00177/27
(TOMMO)
C=0.00671/153
(GnomAD)
- HGVS:
12.
rs1491277211 has merged into rs34277023 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 6:37666368
(GRCh38)
6:37634144
(GRCh37)
- Canonical SPDI:
- NC_000006.12:37666359:AAAAAAAAAAAAAAA:AAAAAAAA,NC_000006.12:37666359:AAAAAAAAAAAAAAA:AAAAAAAAA,NC_000006.12:37666359:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:37666359:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:37666359:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:37666359:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:37666359:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:37666359:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:37666359:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:37666359:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:37666359:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:37666359:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- MDGA1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAA=0./0
(
ALFA)
-=0.1187/440
(TWINSUK)
-=0.1253/483
(ALSPAC)
- HGVS:
NC_000006.12:g.37666368_37666374del, NC_000006.12:g.37666369_37666374del, NC_000006.12:g.37666371_37666374del, NC_000006.12:g.37666372_37666374del, NC_000006.12:g.37666373_37666374del, NC_000006.12:g.37666374del, NC_000006.12:g.37666374dup, NC_000006.12:g.37666373_37666374dup, NC_000006.12:g.37666372_37666374dup, NC_000006.12:g.37666368_37666374dup, NC_000006.12:g.37666374_37666375insAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.37666374_37666375insAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.37634144_37634150del, NC_000006.11:g.37634145_37634150del, NC_000006.11:g.37634147_37634150del, NC_000006.11:g.37634148_37634150del, NC_000006.11:g.37634149_37634150del, NC_000006.11:g.37634150del, NC_000006.11:g.37634150dup, NC_000006.11:g.37634149_37634150dup, NC_000006.11:g.37634148_37634150dup, NC_000006.11:g.37634144_37634150dup, NC_000006.11:g.37634150_37634151insAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.37634150_37634151insAAAAAAAAAAAAAAAAAAAAA, NG_051764.1:g.36625_36631del, NG_051764.1:g.36626_36631del, NG_051764.1:g.36628_36631del, NG_051764.1:g.36629_36631del, NG_051764.1:g.36630_36631del, NG_051764.1:g.36631del, NG_051764.1:g.36631dup, NG_051764.1:g.36630_36631dup, NG_051764.1:g.36629_36631dup, NG_051764.1:g.36625_36631dup, NG_051764.1:g.36631_36632insTTTTTTTTTTTTTTTTTTT, NG_051764.1:g.36631_36632insTTTTTTTTTTTTTTTTTTTTT
14.
rs1491199941 has merged into rs1367724152 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 6:37677675
(GRCh38)
6:37645451
(GRCh37)
- Canonical SPDI:
- NC_000006.12:37677673:TCT:T
- Gene:
- MDGA1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
-=0.000008/1
(GnomAD)
-=0.000011/3
(TOPMED)
- HGVS:
17.
rs1491104863 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TCTCTCTCT
[Show Flanks]
- Chromosome:
- 6:37698245
(GRCh38)
6:37666022
(GRCh37)
- Canonical SPDI:
- NC_000006.12:37698245:TCTCTCTCT:TCTCTCTCTTCTCTCTCT
- Gene:
- MDGA1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TCTCTCTCTTCTCTCTCT=0.00936/111
(
ALFA)
TCTCTCTCT=0.02603/408
(TOMMO)
TCTCTCTCT=0.0539/1270
(GnomAD)
TCTCTCTCT=0.06257/109
(Korea1K)
- HGVS:
18.
rs1491081198 has merged into rs34171567 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 6:37642190
(GRCh38)
6:37609966
(GRCh37)
- Canonical SPDI:
- NC_000006.12:37642179:TTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000006.12:37642179:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:37642179:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:37642179:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:37642179:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:37642179:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:37642179:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:37642179:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:37642179:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:37642179:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000006.12:37642179:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000006.12:37642179:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:37642179:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:37642179:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- MDGA1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTT=0./0
(
ALFA)
T=0.4281/2144
(1000Genomes)
- HGVS:
NC_000006.12:g.37642190_37642196del, NC_000006.12:g.37642191_37642196del, NC_000006.12:g.37642192_37642196del, NC_000006.12:g.37642193_37642196del, NC_000006.12:g.37642194_37642196del, NC_000006.12:g.37642195_37642196del, NC_000006.12:g.37642196del, NC_000006.12:g.37642196dup, NC_000006.12:g.37642195_37642196dup, NC_000006.12:g.37642194_37642196dup, NC_000006.12:g.37642193_37642196dup, NC_000006.12:g.37642192_37642196dup, NC_000006.12:g.37642191_37642196dup, NC_000006.12:g.37642189_37642196dup, NC_000006.11:g.37609966_37609972del, NC_000006.11:g.37609967_37609972del, NC_000006.11:g.37609968_37609972del, NC_000006.11:g.37609969_37609972del, NC_000006.11:g.37609970_37609972del, NC_000006.11:g.37609971_37609972del, NC_000006.11:g.37609972del, NC_000006.11:g.37609972dup, NC_000006.11:g.37609971_37609972dup, NC_000006.11:g.37609970_37609972dup, NC_000006.11:g.37609969_37609972dup, NC_000006.11:g.37609968_37609972dup, NC_000006.11:g.37609967_37609972dup, NC_000006.11:g.37609965_37609972dup, NG_051764.1:g.60805_60811del, NG_051764.1:g.60806_60811del, NG_051764.1:g.60807_60811del, NG_051764.1:g.60808_60811del, NG_051764.1:g.60809_60811del, NG_051764.1:g.60810_60811del, NG_051764.1:g.60811del, NG_051764.1:g.60811dup, NG_051764.1:g.60810_60811dup, NG_051764.1:g.60809_60811dup, NG_051764.1:g.60808_60811dup, NG_051764.1:g.60807_60811dup, NG_051764.1:g.60806_60811dup, NG_051764.1:g.60804_60811dup
19.
rs1491073670 has merged into rs11396920 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 6:37656388
(GRCh38)
6:37624164
(GRCh37)
- Canonical SPDI:
- NC_000006.12:37656377:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000006.12:37656377:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:37656377:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:37656377:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:37656377:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:37656377:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:37656377:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- MDGA1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTT=0./0
(
ALFA)
TT=0.06046/233
(ALSPAC)
TT=0.07282/270
(TWINSUK)
- HGVS:
NC_000006.12:g.37656388_37656390del, NC_000006.12:g.37656389_37656390del, NC_000006.12:g.37656390del, NC_000006.12:g.37656390dup, NC_000006.12:g.37656389_37656390dup, NC_000006.12:g.37656388_37656390dup, NC_000006.12:g.37656381_37656390dup, NC_000006.11:g.37624164_37624166del, NC_000006.11:g.37624165_37624166del, NC_000006.11:g.37624166del, NC_000006.11:g.37624166dup, NC_000006.11:g.37624165_37624166dup, NC_000006.11:g.37624164_37624166dup, NC_000006.11:g.37624157_37624166dup, NG_051764.1:g.46611_46613del, NG_051764.1:g.46612_46613del, NG_051764.1:g.46613del, NG_051764.1:g.46613dup, NG_051764.1:g.46612_46613dup, NG_051764.1:g.46611_46613dup, NG_051764.1:g.46604_46613dup
20.
rs1491047097 has merged into rs10717477 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA
[Show Flanks]
- Chromosome:
- 6:37662174
(GRCh38)
6:37629950
(GRCh37)
- Canonical SPDI:
- NC_000006.12:37662162:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:37662162:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:37662162:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:37662162:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:37662162:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:37662162:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:37662162:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
- Gene:
- MDGA1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
A=0.2474/1239
(1000Genomes)
- HGVS:
NC_000006.12:g.37662174_37662177del, NC_000006.12:g.37662175_37662177del, NC_000006.12:g.37662176_37662177del, NC_000006.12:g.37662177del, NC_000006.12:g.37662177dup, NC_000006.12:g.37662176_37662177dup, NC_000006.12:g.37662175_37662177dup, NC_000006.11:g.37629950_37629953del, NC_000006.11:g.37629951_37629953del, NC_000006.11:g.37629952_37629953del, NC_000006.11:g.37629953del, NC_000006.11:g.37629953dup, NC_000006.11:g.37629952_37629953dup, NC_000006.11:g.37629951_37629953dup, NG_051764.1:g.40825_40828del, NG_051764.1:g.40826_40828del, NG_051764.1:g.40827_40828del, NG_051764.1:g.40828del, NG_051764.1:g.40828dup, NG_051764.1:g.40827_40828dup, NG_051764.1:g.40826_40828dup