SNP Links for Gene (Select 10036) - SNP

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Select item 14914373961.

rs1491437396 has merged into rs57040531 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:4426178 (GRCh38)
19:4426175 (GRCh37)
Canonical SPDI:: NC_000019.10:4426167:TTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:4426167:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:4426167:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:4426167:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:4426167:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:4426167:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:4426167:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:4426167:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:4426167:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:4426167:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:4426167:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:4426167:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:4426167:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:4426167:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CHAF1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
T=0.22/1102 (1000Genomes)
T=0.5/20 (GENOME_DK)
HGVS:: NC_000019.10:g.4426178_4426185del, NC_000019.10:g.4426180_4426185del, NC_000019.10:g.4426181_4426185del, NC_000019.10:g.4426182_4426185del, NC_000019.10:g.4426183_4426185del, NC_000019.10:g.4426184_4426185del, NC_000019.10:g.4426185del, NC_000019.10:g.4426185dup, NC_000019.10:g.4426184_4426185dup, NC_000019.10:g.4426183_4426185dup, NC_000019.10:g.4426181_4426185dup, NC_000019.10:g.4426174_4426185dup, NC_000019.10:g.4426168_4426185T[31]CTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.10:g.4426172_4426185dup, NC_000019.9:g.4426175_4426182del, NC_000019.9:g.4426177_4426182del, NC_000019.9:g.4426178_4426182del, NC_000019.9:g.4426179_4426182del, NC_000019.9:g.4426180_4426182del, NC_000019.9:g.4426181_4426182del, NC_000019.9:g.4426182del, NC_000019.9:g.4426182dup, NC_000019.9:g.4426181_4426182dup, NC_000019.9:g.4426180_4426182dup, NC_000019.9:g.4426178_4426182dup, NC_000019.9:g.4426171_4426182dup, NC_000019.9:g.4426165_4426182T[31]CTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.9:g.4426169_4426182dup

Select item 14913836182.

rs1491383618 has merged into rs5826845 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA,AAAAA,AAAAAA [Show Flanks]
Chromosome:: 19:4407255 (GRCh38)
19:4407252 (GRCh37)
Canonical SPDI:: NC_000019.10:4407247:AAAAAAAAA:AAAAAAA,NC_000019.10:4407247:AAAAAAAAA:AAAAAAAA,NC_000019.10:4407247:AAAAAAAAA:AAAAAAAAAA,NC_000019.10:4407247:AAAAAAAAA:AAAAAAAAAAA,NC_000019.10:4407247:AAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:4407247:AAAAAAAAA:AAAAAAAAAAAAA
Gene:: CHAF1A (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000019.10:g.4407255_4407256del, NC_000019.10:g.4407256del, NC_000019.10:g.4407256dup, NC_000019.10:g.4407255_4407256dup, NC_000019.10:g.4407254_4407256dup, NC_000019.10:g.4407253_4407256dup, NC_000019.9:g.4407252_4407253del, NC_000019.9:g.4407253del, NC_000019.9:g.4407253dup, NC_000019.9:g.4407252_4407253dup, NC_000019.9:g.4407251_4407253dup, NC_000019.9:g.4407250_4407253dup

Select item 14913662093.

rs1491366209 has merged into rs397768061 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:4417473 (GRCh38)
19:4417470 (GRCh37)
Canonical SPDI:: NC_000019.10:4417457:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:4417457:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:4417457:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:4417457:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:4417457:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:4417457:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:4417457:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:4417457:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:4417457:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:4417457:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:4417457:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:4417457:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:4417457:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:4417457:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:4417457:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CHAF1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.4052/2029 (1000Genomes)
HGVS:: NC_000019.10:g.4417473_4417478del, NC_000019.10:g.4417475_4417478del, NC_000019.10:g.4417476_4417478del, NC_000019.10:g.4417477_4417478del, NC_000019.10:g.4417478del, NC_000019.10:g.4417478dup, NC_000019.10:g.4417477_4417478dup, NC_000019.10:g.4417476_4417478dup, NC_000019.10:g.4417475_4417478dup, NC_000019.10:g.4417474_4417478dup, NC_000019.10:g.4417473_4417478dup, NC_000019.10:g.4417472_4417478dup, NC_000019.10:g.4417471_4417478dup, NC_000019.10:g.4417470_4417478dup, NC_000019.10:g.4417469_4417478dup, NC_000019.9:g.4417470_4417475del, NC_000019.9:g.4417472_4417475del, NC_000019.9:g.4417473_4417475del, NC_000019.9:g.4417474_4417475del, NC_000019.9:g.4417475del, NC_000019.9:g.4417475dup, NC_000019.9:g.4417474_4417475dup, NC_000019.9:g.4417473_4417475dup, NC_000019.9:g.4417472_4417475dup, NC_000019.9:g.4417471_4417475dup, NC_000019.9:g.4417470_4417475dup, NC_000019.9:g.4417469_4417475dup, NC_000019.9:g.4417468_4417475dup, NC_000019.9:g.4417467_4417475dup, NC_000019.9:g.4417466_4417475dup

Select item 14913093974.

rs1491309397 [Homo sapiens]

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

Select item 14912803525.

rs1491280352 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 19:4407247 (GRCh38)
19:4407244 (GRCh37)
Canonical SPDI:: NC_000019.10:4407246:CA:
Gene:: CHAF1A (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000029/3 (GnomAD)
-=0.000035/1 (TOMMO)
HGVS:: NC_000019.10:g.4407247_4407248del, NC_000019.9:g.4407244_4407245del

Select item 14910981966.

rs1491098196 [Homo sapiens]

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

Select item 14910692787.

rs1491069278 has merged into rs35200206 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTT>-,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:4406443 (GRCh38)
19:4406440 (GRCh37)
Canonical SPDI:: NC_000019.10:4406433:TTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000019.10:4406433:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:4406433:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:4406433:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:4406433:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:4406433:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:4406433:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:4406433:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:4406433:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:4406433:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:4406433:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:4406433:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CHAF1A (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000019.10:g.4406443_4406452del, NC_000019.10:g.4406446_4406452del, NC_000019.10:g.4406448_4406452del, NC_000019.10:g.4406449_4406452del, NC_000019.10:g.4406450_4406452del, NC_000019.10:g.4406451_4406452del, NC_000019.10:g.4406452del, NC_000019.10:g.4406452dup, NC_000019.10:g.4406451_4406452dup, NC_000019.10:g.4406450_4406452dup, NC_000019.10:g.4406449_4406452dup, NC_000019.10:g.4406448_4406452dup, NC_000019.9:g.4406440_4406449del, NC_000019.9:g.4406443_4406449del, NC_000019.9:g.4406445_4406449del, NC_000019.9:g.4406446_4406449del, NC_000019.9:g.4406447_4406449del, NC_000019.9:g.4406448_4406449del, NC_000019.9:g.4406449del, NC_000019.9:g.4406449dup, NC_000019.9:g.4406448_4406449dup, NC_000019.9:g.4406447_4406449dup, NC_000019.9:g.4406446_4406449dup, NC_000019.9:g.4406445_4406449dup

Select item 14910215358.

rs1491021535 [Homo sapiens]

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

Select item 14909798379.

rs1490979837 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:4402701 (GRCh38)
19:4402698 (GRCh37)
Canonical SPDI:: NC_000019.10:4402700:G:A,NC_000019.10:4402700:G:T
Gene:: CHAF1A (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.4402701G>A, NC_000019.10:g.4402701G>T, NC_000019.9:g.4402698G>A, NC_000019.9:g.4402698G>T, NG_028084.1:g.2868C>T, NG_028084.1:g.2868C>A, XM_011527605.3:c.-62G>A, XM_011527605.3:c.-62G>T, XM_011527605.2:c.-62G>A, XM_011527605.2:c.-62G>T, XM_011527605.1:c.-62G>A, XM_011527605.1:c.-62G>T, XR_936135.3:n.62G>A, XR_936135.3:n.62G>T, XR_936135.2:n.106G>A, XR_936135.2:n.106G>T, XR_936135.1:n.90G>A, XR_936135.1:n.90G>T, NM_005483.3:c.-62G>A, NM_005483.3:c.-62G>T, NM_005483.2:c.-62G>A, NM_005483.2:c.-62G>T, XM_011527607.3:c.-62G>A, XM_011527607.3:c.-62G>T, XM_011527607.2:c.-62G>A, XM_011527607.2:c.-62G>T, XM_011527607.1:c.-62G>A, XM_011527607.1:c.-62G>T, XR_007066505.1:n.62G>A, XR_007066505.1:n.62G>T, XR_007066507.1:n.62G>A, XR_007066507.1:n.62G>T, XM_047438011.1:c.-633G>A, XM_047438011.1:c.-633G>T, XM_047438012.1:c.-582G>A, XM_047438012.1:c.-582G>T

Select item 149084539510.

rs1490845395 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 19:4447013 (GRCh38)
19:4447010 (GRCh37)
Canonical SPDI:: NC_000019.10:4447012:GGG:GG
Gene:: CHAF1A (Varview), UBXN6 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000019/5 (TOPMED)
-=0.002406/40 (TOMMO)
HGVS:: NC_000019.10:g.4447015del, NC_000019.9:g.4447012del, XR_007066505.1:n.5365del, XR_007066507.1:n.5308del

Select item 149081816311.

rs1490818163 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:4440987 (GRCh38)
19:4440984 (GRCh37)
Canonical SPDI:: NC_000019.10:4440986:G:A
Gene:: CHAF1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000023/3 (GnomAD)
A=0.000038/10 (TOPMED)
HGVS:: NC_000019.10:g.4440987G>A, NC_000019.9:g.4440984G>A

Select item 149078720812.

rs1490787208 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 19:4423963 (GRCh38)
19:4423960 (GRCh37)
Canonical SPDI:: NC_000019.10:4423962:C:A,NC_000019.10:4423962:C:G
Gene:: CHAF1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000019.10:g.4423963C>A, NC_000019.10:g.4423963C>G, NC_000019.9:g.4423960C>A, NC_000019.9:g.4423960C>G

Select item 149074166513.

rs1490741665 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:4415652 (GRCh38)
19:4415649 (GRCh37)
Canonical SPDI:: NC_000019.10:4415651:G:A
Gene:: CHAF1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.4415652G>A, NC_000019.9:g.4415649G>A

Select item 149067417614.

rs1490674176 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:4446965 (GRCh38)
19:4446962 (GRCh37)
Canonical SPDI:: NC_000019.10:4446964:A:G
Gene:: CHAF1A (Varview), UBXN6 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.4446965A>G, NC_000019.9:g.4446962A>G, XR_007066505.1:n.5315A>G, XR_007066507.1:n.5258A>G

Select item 149066594415.

rs1490665944 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:4421510 (GRCh38)
19:4421507 (GRCh37)
Canonical SPDI:: NC_000019.10:4421509:C:A,NC_000019.10:4421509:C:T
Gene:: CHAF1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.4421510C>A, NC_000019.10:g.4421510C>T, NC_000019.9:g.4421507C>A, NC_000019.9:g.4421507C>T

Select item 149066069916.

rs1490660699 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:4438050 (GRCh38)
19:4438047 (GRCh37)
Canonical SPDI:: NC_000019.10:4438049:G:A,NC_000019.10:4438049:G:C
Gene:: CHAF1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000019.10:g.4438050G>A, NC_000019.10:g.4438050G>C, NC_000019.9:g.4438047G>A, NC_000019.9:g.4438047G>C

Select item 149063095917.

rs1490630959 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:4439757 (GRCh38)
19:4439754 (GRCh37)
Canonical SPDI:: NC_000019.10:4439756:C:A,NC_000019.10:4439756:C:T
Gene:: CHAF1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000546/1 (Korea1K)
HGVS:: NC_000019.10:g.4439757C>A, NC_000019.10:g.4439757C>T, NC_000019.9:g.4439754C>A, NC_000019.9:g.4439754C>T

Select item 149060718718.

rs1490607187 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 19:4434999 (GRCh38)
19:4434996 (GRCh37)
Canonical SPDI:: NC_000019.10:4434998:A:G,NC_000019.10:4434998:A:T
Gene:: CHAF1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.4434999A>G, NC_000019.10:g.4434999A>T, NC_000019.9:g.4434996A>G, NC_000019.9:g.4434996A>T

Select item 149057648319.

rs1490576483 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:4408202 (GRCh38)
19:4408199 (GRCh37)
Canonical SPDI:: NC_000019.10:4408201:T:C
Gene:: CHAF1A (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.4408202T>C, NC_000019.9:g.4408199T>C

Select item 149056271020.

rs1490562710 has merged into rs778100682 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:4408473 (GRCh38)
19:4408470 (GRCh37)
Canonical SPDI:: NC_000019.10:4408461:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:4408461:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:4408461:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:4408461:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:4408461:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:4408461:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:4408461:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:4408461:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:4408461:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:4408461:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:4408461:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:4408461:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:4408461:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:4408461:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:4408461:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:4408461:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:4408461:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:4408461:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:4408461:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:4408461:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:4408461:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:4408461:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:4408461:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:4408461:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:4408461:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:4408461:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:4408461:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:4408461:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:4408461:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:4408461:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:4408461:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:4408461:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:4408461:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:4408461:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:4408461:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:4408461:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:4408461:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:4408461:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:4408461:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:4408461:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:4408461:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:4408461:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:4408461:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:4408461:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:4408461:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:4408461:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:4408461:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:4408461:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:4408461:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:4408461:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:4408461:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CHAF1A (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.2/8 (GENOME_DK)
HGVS:: NC_000019.10:g.4408473_4408491del, NC_000019.10:g.4408474_4408491del, NC_000019.10:g.4408475_4408491del, NC_000019.10:g.4408476_4408491del, NC_000019.10:g.4408477_4408491del, NC_000019.10:g.4408478_4408491del, NC_000019.10:g.4408479_4408491del, NC_000019.10:g.4408480_4408491del, NC_000019.10:g.4408481_4408491del, NC_000019.10:g.4408482_4408491del, NC_000019.10:g.4408483_4408491del, NC_000019.10:g.4408484_4408491del, NC_000019.10:g.4408485_4408491del, NC_000019.10:g.4408486_4408491del, NC_000019.10:g.4408487_4408491del, NC_000019.10:g.4408488_4408491del, NC_000019.10:g.4408489_4408491del, NC_000019.10:g.4408490_4408491del, NC_000019.10:g.4408491del, NC_000019.10:g.4408491dup, NC_000019.10:g.4408490_4408491dup, NC_000019.10:g.4408489_4408491dup, NC_000019.10:g.4408488_4408491dup, NC_000019.10:g.4408487_4408491dup, NC_000019.10:g.4408486_4408491dup, NC_000019.10:g.4408485_4408491dup, NC_000019.10:g.4408484_4408491dup, NC_000019.10:g.4408483_4408491dup, NC_000019.10:g.4408482_4408491dup, NC_000019.10:g.4408481_4408491dup, NC_000019.10:g.4408480_4408491dup, NC_000019.10:g.4408478_4408491dup, NC_000019.10:g.4408477_4408491dup, NC_000019.10:g.4408476_4408491dup, NC_000019.10:g.4408470_4408491dup, NC_000019.10:g.4408469_4408491dup, NC_000019.10:g.4408468_4408491dup, NC_000019.10:g.4408467_4408491dup, NC_000019.10:g.4408466_4408491dup, NC_000019.10:g.4408465_4408491dup, NC_000019.10:g.4408464_4408491dup, NC_000019.10:g.4408463_4408491dup, NC_000019.10:g.4408462_4408491dup, NC_000019.10:g.4408491_4408492insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.4408491_4408492insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.4408491_4408492insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.4408491_4408492insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.4408491_4408492insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.4408491_4408492insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.4408491_4408492insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.4408491_4408492insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.4408470_4408488del, NC_000019.9:g.4408471_4408488del, NC_000019.9:g.4408472_4408488del, NC_000019.9:g.4408473_4408488del, NC_000019.9:g.4408474_4408488del, NC_000019.9:g.4408475_4408488del, NC_000019.9:g.4408476_4408488del, NC_000019.9:g.4408477_4408488del, NC_000019.9:g.4408478_4408488del, NC_000019.9:g.4408479_4408488del, NC_000019.9:g.4408480_4408488del, NC_000019.9:g.4408481_4408488del, NC_000019.9:g.4408482_4408488del, NC_000019.9:g.4408483_4408488del, NC_000019.9:g.4408484_4408488del, NC_000019.9:g.4408485_4408488del, NC_000019.9:g.4408486_4408488del, NC_000019.9:g.4408487_4408488del, NC_000019.9:g.4408488del, NC_000019.9:g.4408488dup, NC_000019.9:g.4408487_4408488dup, NC_000019.9:g.4408486_4408488dup, NC_000019.9:g.4408485_4408488dup, NC_000019.9:g.4408484_4408488dup, NC_000019.9:g.4408483_4408488dup, NC_000019.9:g.4408482_4408488dup, NC_000019.9:g.4408481_4408488dup, NC_000019.9:g.4408480_4408488dup, NC_000019.9:g.4408479_4408488dup, NC_000019.9:g.4408478_4408488dup, NC_000019.9:g.4408477_4408488dup, NC_000019.9:g.4408475_4408488dup, NC_000019.9:g.4408474_4408488dup, NC_000019.9:g.4408473_4408488dup, NC_000019.9:g.4408467_4408488dup, NC_000019.9:g.4408466_4408488dup, NC_000019.9:g.4408465_4408488dup, NC_000019.9:g.4408464_4408488dup, NC_000019.9:g.4408463_4408488dup, NC_000019.9:g.4408462_4408488dup, NC_000019.9:g.4408461_4408488dup, NC_000019.9:g.4408460_4408488dup, NC_000019.9:g.4408459_4408488dup, NC_000019.9:g.4408488_4408489insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.4408488_4408489insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.4408488_4408489insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.4408488_4408489insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.4408488_4408489insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.4408488_4408489insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.4408488_4408489insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.4408488_4408489insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

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