SNP Links for Gene (Select 347365) - SNP

Links from Gene

Items: 1 to 20 of 9856

<< First< Prev

Page of 493

Next >Last >>

Select item 14915391601.

rs1491539160 has merged into rs56091331 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGAGAGA>-,GAGA,GAGAGA,GAGAGAGAGA,GAGAGAGAGAGA,GAGAGAGAGAGAGA [Show Flanks]
Chromosome:: X:54777615 (GRCh38)
X:54804048 (GRCh37)
Canonical SPDI:: NC_000023.11:54777603:AGAGAGAGAGAGAGAGAGA:AGAGAGAGAGA,NC_000023.11:54777603:AGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGA,NC_000023.11:54777603:AGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGA,NC_000023.11:54777603:AGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGA,NC_000023.11:54777603:AGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGA,NC_000023.11:54777603:AGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGA
Gene:: ITIH6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGAGAGAGAGAGA=0./0 (ALFA)
AGAGAG=0.000008/2 (TOPMED)
AG=0.016159/61 (1000Genomes)
AG=0.125/5 (GENOME_DK)
HGVS:: NC_000023.11:g.54777605GA[5], NC_000023.11:g.54777605GA[7], NC_000023.11:g.54777605GA[8], NC_000023.11:g.54777605GA[10], NC_000023.11:g.54777605GA[11], NC_000023.11:g.54777605GA[12], NC_000023.10:g.54804038GA[5], NC_000023.10:g.54804038GA[7], NC_000023.10:g.54804038GA[8], NC_000023.10:g.54804038GA[10], NC_000023.10:g.54804038GA[11], NC_000023.10:g.54804038GA[12], NG_013240.1:g.25620CT[5], NG_013240.1:g.25620CT[7], NG_013240.1:g.25620CT[8], NG_013240.1:g.25620CT[10], NG_013240.1:g.25620CT[11], NG_013240.1:g.25620CT[12]

Select item 14909337372.

rs1490933737 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: X:54761323 (GRCh38)
X:54787756 (GRCh37)
Canonical SPDI:: NC_000023.11:54761322:G:C,NC_000023.11:54761322:G:T
Gene:: ITIH6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.54761323G>C, NC_000023.11:g.54761323G>T, NC_000023.10:g.54787756G>C, NC_000023.10:g.54787756G>T, NG_013240.1:g.41918C>G, NG_013240.1:g.41918C>A

Select item 14908384263.

rs1490838426 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: X:54758810 (GRCh38)
X:54785243 (GRCh37)
Canonical SPDI:: NC_000023.11:54758809:C:A,NC_000023.11:54758809:C:T
Gene:: ITIH6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
T=0./0 (KOREAN)
A=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.54758810C>A, NC_000023.11:g.54758810C>T, NC_000023.10:g.54785243C>A, NC_000023.10:g.54785243C>T, NG_013240.1:g.44431G>T, NG_013240.1:g.44431G>A, NM_198510.3:c.1264G>T, NM_198510.3:c.1264G>A, NM_198510.2:c.1264G>T, NM_198510.2:c.1264G>A, NP_940912.1:p.Val422Leu, NP_940912.1:p.Val422Ile

Select item 14906187234.

rs1490618723 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: X:54757964 (GRCh38)
X:54784397 (GRCh37)
Canonical SPDI:: NC_000023.11:54757963:T:A
Gene:: ITIH6 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.54757964T>A, NC_000023.10:g.54784397T>A, NG_013240.1:g.45277A>T, NM_198510.3:c.2110A>T, NM_198510.2:c.2110A>T, NP_940912.1:p.Lys704Ter

Select item 14905744125.

rs1490574412 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: X:54777309 (GRCh38)
X:54803742 (GRCh37)
Canonical SPDI:: NC_000023.11:54777308:T:A
Gene:: ITIH6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000224/1 (ALFA)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.54777309T>A, NC_000023.10:g.54803742T>A, NG_013240.1:g.25932A>T

Select item 14905079666.

rs1490507966 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:54764557 (GRCh38)
X:54790990 (GRCh37)
Canonical SPDI:: NC_000023.11:54764556:A:G
Gene:: ITIH6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00008/1 (ALFA)
G=0.00014/14 (GnomAD)
G=0.00021/1 (1000Genomes)
A=0.5/1 (SGDP_PRJ)
HGVS:: NC_000023.11:g.54764557A>G, NC_000023.10:g.54790990A>G, NG_013240.1:g.38684T>C

Select item 14904955607.

rs1490495560 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:54783596 (GRCh38)
X:54810029 (GRCh37)
Canonical SPDI:: NC_000023.11:54783595:A:G
Gene:: ITIH6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.54783596A>G, NC_000023.10:g.54810029A>G, NG_013240.1:g.19645T>C

Select item 14904720058.

rs1490472005 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: X:54766391 (GRCh38)
X:54792824 (GRCh37)
Canonical SPDI:: NC_000023.11:54766390:G:A,NC_000023.11:54766390:G:C,NC_000023.11:54766390:G:T
Gene:: ITIH6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
T=0.00006/4 (GnomAD)
HGVS:: NC_000023.11:g.54766391G>A, NC_000023.11:g.54766391G>C, NC_000023.11:g.54766391G>T, NC_000023.10:g.54792824G>A, NC_000023.10:g.54792824G>C, NC_000023.10:g.54792824G>T, NG_013240.1:g.36850C>T, NG_013240.1:g.36850C>G, NG_013240.1:g.36850C>A

Select item 14904384589.

rs1490438458 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: X:54782011 (GRCh38)
X:54808444 (GRCh37)
Canonical SPDI:: NC_000023.11:54782010:T:A
Gene:: ITIH6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.54782011T>A, NC_000023.10:g.54808444T>A, NG_013240.1:g.21230A>T

Select item 149024479910.

rs1490244799 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:54779171 (GRCh38)
X:54805604 (GRCh37)
Canonical SPDI:: NC_000023.11:54779170:A:G
Gene:: ITIH6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.54779171A>G, NC_000023.10:g.54805604A>G, NG_013240.1:g.24070T>C

Select item 149022810911.

rs1490228109 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:54774232 (GRCh38)
X:54800665 (GRCh37)
Canonical SPDI:: NC_000023.11:54774231:A:G
Gene:: ITIH6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.54774232A>G, NC_000023.10:g.54800665A>G, NG_013240.1:g.29009T>C

Select item 149021024012.

rs1490210240 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: X:54764178 (GRCh38)
X:54790611 (GRCh37)
Canonical SPDI:: NC_000023.11:54764177:C:A,NC_000023.11:54764177:C:T
Gene:: ITIH6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00001/1 (GnomAD)
A=0.000011/3 (TOPMED)
A=0.00009/1 (TOMMO)
A=0.000685/2 (KOREAN)
HGVS:: NC_000023.11:g.54764178C>A, NC_000023.11:g.54764178C>T, NC_000023.10:g.54790611C>A, NC_000023.10:g.54790611C>T, NG_013240.1:g.39063G>T, NG_013240.1:g.39063G>A

Select item 149019454613.

rs1490194546 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: X:54765068 (GRCh38)
X:54791501 (GRCh37)
Canonical SPDI:: NC_000023.11:54765067:G:A,NC_000023.11:54765067:G:C,NC_000023.11:54765067:G:T
Gene:: ITIH6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000023.11:g.54765068G>A, NC_000023.11:g.54765068G>C, NC_000023.11:g.54765068G>T, NC_000023.10:g.54791501G>A, NC_000023.10:g.54791501G>C, NC_000023.10:g.54791501G>T, NG_013240.1:g.38173C>T, NG_013240.1:g.38173C>G, NG_013240.1:g.38173C>A

Select item 149013805314.

rs1490138053 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: X:54782451 (GRCh38)
X:54808884 (GRCh37)
Canonical SPDI:: NC_000023.11:54782450:T:A,NC_000023.11:54782450:T:G
Gene:: ITIH6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.54782451T>A, NC_000023.11:g.54782451T>G, NC_000023.10:g.54808884T>A, NC_000023.10:g.54808884T>G, NG_013240.1:g.20790A>T, NG_013240.1:g.20790A>C

Select item 149013615115.

rs1490136151 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:54780780 (GRCh38)
X:54807213 (GRCh37)
Canonical SPDI:: NC_000023.11:54780779:A:G
Gene:: ITIH6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00001/1 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.54780780A>G, NC_000023.10:g.54807213A>G, NG_013240.1:g.22461T>C

Select item 149011071716.

rs1490110717 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:54780710 (GRCh38)
X:54807143 (GRCh37)
Canonical SPDI:: NC_000023.11:54780709:A:G
Gene:: ITIH6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.54780710A>G, NC_000023.10:g.54807143A>G, NG_013240.1:g.22531T>C

Select item 149009630317.

rs1490096303 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:54755912 (GRCh38)
X:54782345 (GRCh37)
Canonical SPDI:: NC_000023.11:54755911:A:G
Gene:: ITIH6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.54755912A>G, NC_000023.10:g.54782345A>G, NG_013240.1:g.47329T>C

Select item 149001775018.

rs1490017750 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: X:54765565 (GRCh38)
X:54791998 (GRCh37)
Canonical SPDI:: NC_000023.11:54765564:A:T
Gene:: ITIH6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.00012/2 (ALFA)
T=0.00002/2 (GnomAD)
HGVS:: NC_000023.11:g.54765565A>T, NC_000023.10:g.54791998A>T, NG_013240.1:g.37676T>A

Select item 148988109119.

rs1489881091 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:54790007 (GRCh38)
X:54816440 (GRCh37)
Canonical SPDI:: NC_000023.11:54790006:C:G
Gene:: ITIH6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000011/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.54790007C>G, NC_000023.10:g.54816440C>G, NG_013240.1:g.13234G>C

Select item 148975564920.

rs1489755649 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: X:54782784 (GRCh38)
X:54809217 (GRCh37)
Canonical SPDI:: NC_000023.11:54782783:T:A
Gene:: ITIH6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00001/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.54782784T>A, NC_000023.10:g.54809217T>A, NG_013240.1:g.20457A>T

<< First< Prev

Page of 493

Next >Last >>

dbSNP

Result Filters

Clinical Significance

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 9856

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity