Links from Nucleotide
Items: 1 to 20 of 1000
1.
rs1491517353 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TC>-
[Show Flanks]
- Chromosome:
- 10:84205514
(GRCh38)
10:85965270
(GRCh37)
- Canonical SPDI:
- NC_000010.11:84205513:TC:
- Gene:
- CDHR1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00101/12
(
ALFA)
-=0.00181/121
(GnomAD)
- HGVS:
2.
rs1491491396 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AA>-
[Show Flanks]
- Chromosome:
- 10:84198902
(GRCh38)
10:85958658
(GRCh37)
- Canonical SPDI:
- NC_000010.11:84198901:AA:
- Gene:
- CDHR1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000079/8
(GnomAD)
-=0.000781/4
(1000Genomes)
- HGVS:
3.
rs1491072320 has merged into rs201532073 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT,TTTT
[Show Flanks]
- Chromosome:
- 10:84190024
(GRCh38)
10:85949780
(GRCh37)
- Canonical SPDI:
- NC_000010.11:84190016:TTTTTTTTT:TTTTTTT,NC_000010.11:84190016:TTTTTTTTT:TTTTTTTT,NC_000010.11:84190016:TTTTTTTTT:TTTTTTTTTT,NC_000010.11:84190016:TTTTTTTTT:TTTTTTTTTTT
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
T=0.013585/68
(1000Genomes)
T=0.037037/8
(Vietnamese)
- HGVS:
NC_000010.11:g.84190024_84190025del, NC_000010.11:g.84190025del, NC_000010.11:g.84190025dup, NC_000010.11:g.84190024_84190025dup, NC_000010.10:g.85949780_85949781del, NC_000010.10:g.85949781del, NC_000010.10:g.85949781dup, NC_000010.10:g.85949780_85949781dup, NG_028034.1:g.369_370del, NG_028034.1:g.370del, NG_028034.1:g.370dup, NG_028034.1:g.369_370dup
4.
rs1491028934 has merged into rs33921515 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ACACACACACACAC>-,AC,ACAC,ACACAC,ACACACAC,ACACACACAC,ACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC,ACACACACACACACACACACAC,ACACACACACACACACACACACAC,ACACACACACACACACACACACACAC,ACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACAC
[Show Flanks]
- Chromosome:
- 10:84205532
(GRCh38)
10:85965288
(GRCh37)
- Canonical SPDI:
- NC_000010.11:84205514:CACACACACACACACACACACACACACACAC:CACACACACACACACAC,NC_000010.11:84205514:CACACACACACACACACACACACACACACAC:CACACACACACACACACAC,NC_000010.11:84205514:CACACACACACACACACACACACACACACAC:CACACACACACACACACACAC,NC_000010.11:84205514:CACACACACACACACACACACACACACACAC:CACACACACACACACACACACAC,NC_000010.11:84205514:CACACACACACACACACACACACACACACAC:CACACACACACACACACACACACAC,NC_000010.11:84205514:CACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACAC,NC_000010.11:84205514:CACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACAC,NC_000010.11:84205514:CACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACAC,NC_000010.11:84205514:CACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACAC,NC_000010.11:84205514:CACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACAC,NC_000010.11:84205514:CACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACAC,NC_000010.11:84205514:CACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACAC,NC_000010.11:84205514:CACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACAC,NC_000010.11:84205514:CACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACAC,NC_000010.11:84205514:CACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACAC,NC_000010.11:84205514:CACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000010.11:84205514:CACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACAC
- Gene:
- CDHR1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CACACACACACACACACAC=0./0
(
ALFA)
- HGVS:
NC_000010.11:g.84205516AC[8], NC_000010.11:g.84205516AC[9], NC_000010.11:g.84205516AC[10], NC_000010.11:g.84205516AC[11], NC_000010.11:g.84205516AC[12], NC_000010.11:g.84205516AC[13], NC_000010.11:g.84205516AC[14], NC_000010.11:g.84205516AC[16], NC_000010.11:g.84205516AC[17], NC_000010.11:g.84205516AC[18], NC_000010.11:g.84205516AC[19], NC_000010.11:g.84205516AC[20], NC_000010.11:g.84205516AC[21], NC_000010.11:g.84205516AC[22], NC_000010.11:g.84205516AC[23], NC_000010.11:g.84205516AC[24], NC_000010.11:g.84205516AC[25], NC_000010.10:g.85965272AC[8], NC_000010.10:g.85965272AC[9], NC_000010.10:g.85965272AC[10], NC_000010.10:g.85965272AC[11], NC_000010.10:g.85965272AC[12], NC_000010.10:g.85965272AC[13], NC_000010.10:g.85965272AC[14], NC_000010.10:g.85965272AC[16], NC_000010.10:g.85965272AC[17], NC_000010.10:g.85965272AC[18], NC_000010.10:g.85965272AC[19], NC_000010.10:g.85965272AC[20], NC_000010.10:g.85965272AC[21], NC_000010.10:g.85965272AC[22], NC_000010.10:g.85965272AC[23], NC_000010.10:g.85965272AC[24], NC_000010.10:g.85965272AC[25], NG_028034.1:g.15861AC[8], NG_028034.1:g.15861AC[9], NG_028034.1:g.15861AC[10], NG_028034.1:g.15861AC[11], NG_028034.1:g.15861AC[12], NG_028034.1:g.15861AC[13], NG_028034.1:g.15861AC[14], NG_028034.1:g.15861AC[16], NG_028034.1:g.15861AC[17], NG_028034.1:g.15861AC[18], NG_028034.1:g.15861AC[19], NG_028034.1:g.15861AC[20], NG_028034.1:g.15861AC[21], NG_028034.1:g.15861AC[22], NG_028034.1:g.15861AC[23], NG_028034.1:g.15861AC[24], NG_028034.1:g.15861AC[25]
5.
rs1490835378 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 10:84218487
(GRCh38)
10:85978243
(GRCh37)
- Canonical SPDI:
- NC_000010.11:84218486:G:A,NC_000010.11:84218486:G:C
- Gene:
- CDHR1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
- HGVS:
NC_000010.11:g.84218487G>A, NC_000010.11:g.84218487G>C, NC_000010.10:g.85978243G>A, NC_000010.10:g.85978243G>C, NG_028034.1:g.28832G>A, NG_028034.1:g.28832G>C, NM_033100.4:c.*3866G>A, NM_033100.4:c.*3866G>C, NM_033100.3:c.*3866G>A, NM_033100.3:c.*3866G>C, XM_011540337.2:c.*3866G>A, XM_011540337.2:c.*3866G>C, XM_011540337.1:c.*3866G>A, XM_011540337.1:c.*3866G>C, XM_011540339.2:c.*3866G>A, XM_011540339.2:c.*3866G>C, XM_011540339.1:c.*3866G>A, XM_011540339.1:c.*3866G>C, XM_047425997.1:c.*3866G>A, XM_047425997.1:c.*3866G>C
6.
rs1490736365 has merged into rs71009902 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTTTTTTTTTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 10:84190212
(GRCh38)
10:85949968
(GRCh37)
- Canonical SPDI:
- NC_000010.11:84190199:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000010.11:84190199:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000010.11:84190199:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000010.11:84190199:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000010.11:84190199:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000010.11:84190199:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000010.11:84190199:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000010.11:84190199:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000010.11:84190199:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000010.11:84190199:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:84190199:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:84190199:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:84190199:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:84190199:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:84190199:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:84190199:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:84190199:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:84190199:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:84190199:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:84190199:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:84190199:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:84190199:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:84190199:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:84190199:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:84190199:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:84190199:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:84190199:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:84190199:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:84190199:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:84190199:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:84190199:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:84190199:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:84190199:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:84190199:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:84190199:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:84190199:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:84190199:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:84190199:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:84190199:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:84190199:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:84190199:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:84190199:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:84190199:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:84190199:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTT=0./0
(
ALFA)
TTTTTTTTTTTTTTT=0.0034/2
(NorthernSweden)
- HGVS:
NC_000010.11:g.84190212_84190237del, NC_000010.11:g.84190213_84190237del, NC_000010.11:g.84190215_84190237del, NC_000010.11:g.84190216_84190237del, NC_000010.11:g.84190217_84190237del, NC_000010.11:g.84190218_84190237del, NC_000010.11:g.84190219_84190237del, NC_000010.11:g.84190220_84190237del, NC_000010.11:g.84190221_84190237del, NC_000010.11:g.84190222_84190237del, NC_000010.11:g.84190223_84190237del, NC_000010.11:g.84190224_84190237del, NC_000010.11:g.84190225_84190237del, NC_000010.11:g.84190226_84190237del, NC_000010.11:g.84190227_84190237del, NC_000010.11:g.84190228_84190237del, NC_000010.11:g.84190229_84190237del, NC_000010.11:g.84190230_84190237del, NC_000010.11:g.84190231_84190237del, NC_000010.11:g.84190232_84190237del, NC_000010.11:g.84190233_84190237del, NC_000010.11:g.84190234_84190237del, NC_000010.11:g.84190235_84190237del, NC_000010.11:g.84190236_84190237del, NC_000010.11:g.84190237del, NC_000010.11:g.84190237dup, NC_000010.11:g.84190236_84190237dup, NC_000010.11:g.84190235_84190237dup, NC_000010.11:g.84190234_84190237dup, NC_000010.11:g.84190233_84190237dup, NC_000010.11:g.84190232_84190237dup, NC_000010.11:g.84190231_84190237dup, NC_000010.11:g.84190230_84190237dup, NC_000010.11:g.84190229_84190237dup, NC_000010.11:g.84190228_84190237dup, NC_000010.11:g.84190227_84190237dup, NC_000010.11:g.84190226_84190237dup, NC_000010.11:g.84190225_84190237dup, NC_000010.11:g.84190224_84190237dup, NC_000010.11:g.84190223_84190237dup, NC_000010.11:g.84190222_84190237dup, NC_000010.11:g.84190221_84190237dup, NC_000010.11:g.84190219_84190237dup, NC_000010.11:g.84190215_84190237dup, NC_000010.10:g.85949968_85949993del, NC_000010.10:g.85949969_85949993del, NC_000010.10:g.85949971_85949993del, NC_000010.10:g.85949972_85949993del, NC_000010.10:g.85949973_85949993del, NC_000010.10:g.85949974_85949993del, NC_000010.10:g.85949975_85949993del, NC_000010.10:g.85949976_85949993del, NC_000010.10:g.85949977_85949993del, NC_000010.10:g.85949978_85949993del, NC_000010.10:g.85949979_85949993del, NC_000010.10:g.85949980_85949993del, NC_000010.10:g.85949981_85949993del, NC_000010.10:g.85949982_85949993del, NC_000010.10:g.85949983_85949993del, NC_000010.10:g.85949984_85949993del, NC_000010.10:g.85949985_85949993del, NC_000010.10:g.85949986_85949993del, NC_000010.10:g.85949987_85949993del, NC_000010.10:g.85949988_85949993del, NC_000010.10:g.85949989_85949993del, NC_000010.10:g.85949990_85949993del, NC_000010.10:g.85949991_85949993del, NC_000010.10:g.85949992_85949993del, NC_000010.10:g.85949993del, NC_000010.10:g.85949993dup, NC_000010.10:g.85949992_85949993dup, NC_000010.10:g.85949991_85949993dup, NC_000010.10:g.85949990_85949993dup, NC_000010.10:g.85949989_85949993dup, NC_000010.10:g.85949988_85949993dup, NC_000010.10:g.85949987_85949993dup, NC_000010.10:g.85949986_85949993dup, NC_000010.10:g.85949985_85949993dup, NC_000010.10:g.85949984_85949993dup, NC_000010.10:g.85949983_85949993dup, NC_000010.10:g.85949982_85949993dup, NC_000010.10:g.85949981_85949993dup, NC_000010.10:g.85949980_85949993dup, NC_000010.10:g.85949979_85949993dup, NC_000010.10:g.85949978_85949993dup, NC_000010.10:g.85949977_85949993dup, NC_000010.10:g.85949975_85949993dup, NC_000010.10:g.85949971_85949993dup, NG_028034.1:g.557_582del, NG_028034.1:g.558_582del, NG_028034.1:g.560_582del, NG_028034.1:g.561_582del, NG_028034.1:g.562_582del, NG_028034.1:g.563_582del, NG_028034.1:g.564_582del, NG_028034.1:g.565_582del, NG_028034.1:g.566_582del, NG_028034.1:g.567_582del, NG_028034.1:g.568_582del, NG_028034.1:g.569_582del, NG_028034.1:g.570_582del, NG_028034.1:g.571_582del, NG_028034.1:g.572_582del, NG_028034.1:g.573_582del, NG_028034.1:g.574_582del, NG_028034.1:g.575_582del, NG_028034.1:g.576_582del, NG_028034.1:g.577_582del, NG_028034.1:g.578_582del, NG_028034.1:g.579_582del, NG_028034.1:g.580_582del, NG_028034.1:g.581_582del, NG_028034.1:g.582del, NG_028034.1:g.582dup, NG_028034.1:g.581_582dup, NG_028034.1:g.580_582dup, NG_028034.1:g.579_582dup, NG_028034.1:g.578_582dup, NG_028034.1:g.577_582dup, NG_028034.1:g.576_582dup, NG_028034.1:g.575_582dup, NG_028034.1:g.574_582dup, NG_028034.1:g.573_582dup, NG_028034.1:g.572_582dup, NG_028034.1:g.571_582dup, NG_028034.1:g.570_582dup, NG_028034.1:g.569_582dup, NG_028034.1:g.568_582dup, NG_028034.1:g.567_582dup, NG_028034.1:g.566_582dup, NG_028034.1:g.564_582dup, NG_028034.1:g.560_582dup
7.
rs1490684700 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 10:84191060
(GRCh38)
10:85950816
(GRCh37)
- Canonical SPDI:
- NC_000010.11:84191059:C:A
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
8.
rs1490418040 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 10:84212118
(GRCh38)
10:85971874
(GRCh37)
- Canonical SPDI:
- NC_000010.11:84212117:T:C
- Gene:
- CDHR1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
9.
rs1490402360 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 10:84212020
(GRCh38)
10:85971776
(GRCh37)
- Canonical SPDI:
- NC_000010.11:84212019:T:C
- Gene:
- CDHR1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
10.
rs1490299058 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 10:84211253
(GRCh38)
10:85971009
(GRCh37)
- Canonical SPDI:
- NC_000010.11:84211252:C:A,NC_000010.11:84211252:C:T
- Gene:
- CDHR1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
11.
rs1490288047 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 10:84196707
(GRCh38)
10:85956463
(GRCh37)
- Canonical SPDI:
- NC_000010.11:84196706:G:A
- Gene:
- CDHR1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
12.
rs1490263076 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 10:84209084
(GRCh38)
10:85968840
(GRCh37)
- Canonical SPDI:
- NC_000010.11:84209083:C:A
- Gene:
- CDHR1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000071/1
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
13.
rs1490009510 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 10:84195004
(GRCh38)
10:85954760
(GRCh37)
- Canonical SPDI:
- NC_000010.11:84195003:T:C
- Gene:
- CDHR1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.00003/8
(TOPMED)
- HGVS:
NC_000010.11:g.84195004T>C, NC_000010.10:g.85954760T>C, NG_028034.1:g.5349T>C, XM_011540340.4:c.-261T>C, XM_011540340.3:c.-261T>C, XM_011540340.2:c.-261T>C, XM_011540340.1:c.-261T>C, XM_011540337.2:c.-261T>C, XM_011540337.1:c.-261T>C, XM_011540338.2:c.-261T>C, XM_011540338.1:c.-261T>C
14.
rs1489987975 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 10:84218067
(GRCh38)
10:85977823
(GRCh37)
- Canonical SPDI:
- NC_000010.11:84218066:G:A
- Gene:
- CDHR1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000019/5
(TOPMED)
- HGVS:
15.
rs1489973955 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 10:84192812
(GRCh38)
10:85952568
(GRCh37)
- Canonical SPDI:
- NC_000010.11:84192810:TGT:T
- Gene:
- CDHR1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
-=0.000021/3
(GnomAD)
- HGVS:
16.
rs1489962581 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 10:84219083
(GRCh38)
10:85978839
(GRCh37)
- Canonical SPDI:
- NC_000010.11:84219082:G:A
- Gene:
- CDHR1 (Varview)
- Functional Consequence:
- downstream_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000071/1
(
ALFA)
A=0.000011/3
(TOPMED)
- HGVS:
17.
rs1489761544 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 10:84210611
(GRCh38)
10:85970367
(GRCh37)
- Canonical SPDI:
- NC_000010.11:84210610:CCCCC:CCCC
- Gene:
- CDHR1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCCC=0.000071/1
(
ALFA)
-=0.000021/3
(GnomAD)
-=0.00003/8
(TOPMED)
-=0.000283/5
(TOMMO)
-=0.001638/3
(Korea1K)
- HGVS:
18.
rs1489758720 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 10:84213631
(GRCh38)
10:85973387
(GRCh37)
- Canonical SPDI:
- NC_000010.11:84213630:G:A
- Gene:
- CDHR1 (Varview)
- Functional Consequence:
- downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
19.
rs1489590977 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 10:84217451
(GRCh38)
10:85977207
(GRCh37)
- Canonical SPDI:
- NC_000010.11:84217450:C:T
- Gene:
- CDHR1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
20.
rs1489432286 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 10:84221205
(GRCh38)
10:85980961
(GRCh37)
- Canonical SPDI:
- NC_000010.11:84221204:T:A
- Gene:
- LRIT2 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS: