SNP Links for Gene (Select 104413891) - SNP

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Select item 14911626261.

rs1491162626 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 6:31765448 (GRCh38)
6:31733225 (GRCh37)
Canonical SPDI:: NC_000006.12:31765446:ACA:A
Gene:: VWA7 (Varview), SAPCD1-AS1 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.31765448_31765449del, NC_000006.11:g.31733225_31733226del, NT_113891.3:g.3242706_3242707del, NT_113891.2:g.3242812_3242813del, NT_167245.2:g.3013222_3013223del, NT_167245.1:g.3018807_3018808del, NT_167249.2:g.3064740_3064741del, NT_167249.1:g.3064038_3064039del, NT_167247.2:g.3107337_3107338del, NT_167247.1:g.3112922_3112923del, NT_167244.2:g.3098060_3098061del, NT_167244.1:g.3047976_3047977del

Select item 14910389662.

rs1491038966 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 6:31764769 (GRCh38)
6:31732546 (GRCh37)
Canonical SPDI:: NC_000006.12:31764768:AG:
Gene:: SAPCD1 (Varview), MSH5-SAPCD1 (Varview), SAPCD1-AS1 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000006.12:g.31764769_31764770del, NC_000006.11:g.31732546_31732547del, NT_113891.3:g.3242027_3242028del, NT_113891.2:g.3242133_3242134del, NT_167245.2:g.3012543_3012544del, NT_167245.1:g.3018128_3018129del, NT_167249.2:g.3064061_3064062del, NT_167249.1:g.3063359_3063360del, NT_167247.2:g.3106658_3106659del, NT_167247.1:g.3112243_3112244del, NT_167244.2:g.3097381_3097382del, NT_167244.1:g.3047297_3047298del, NM_001039651.2:c.*238_*239del, NM_001039651.1:c.*238_*239del, NR_037846.1:n.3982_3983del

Select item 14895206293.

rs1489520629 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:31765582 (GRCh38)
6:31733359 (GRCh37)
Canonical SPDI:: NC_000006.12:31765581:G:T
Gene:: VWA7 (Varview), SAPCD1-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000006.12:g.31765582G>T, NC_000006.11:g.31733359G>T, NT_113891.3:g.3242840G>T, NT_113891.2:g.3242946G>T, NT_167245.2:g.3013356G>T, NT_167245.1:g.3018941G>T, NT_167249.2:g.3064874G>T, NT_167249.1:g.3064172G>T, NT_167247.2:g.3107471G>T, NT_167247.1:g.3113056G>T, NT_167244.2:g.3098194G>T, NT_167244.1:g.3048110G>T, NR_126423.1:n.7C>A

Select item 14876372824.

rs1487637282 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:31764189 (GRCh38)
6:31731966 (GRCh37)
Canonical SPDI:: NC_000006.12:31764188:T:C
Gene:: SAPCD1 (Varview), MSH5-SAPCD1 (Varview), SAPCD1-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.31764189T>C, NC_000006.11:g.31731966T>C, NG_011611.1:g.29193T>C, NT_113891.3:g.3241446T>C, NT_113891.2:g.3241552T>C, NT_167245.2:g.3011963T>C, NT_167245.1:g.3017548T>C, NT_167247.2:g.3106078T>C, NT_167247.1:g.3111663T>C, NT_167249.2:g.3063481T>C, NT_167249.1:g.3062779T>C, NT_167244.2:g.3096801T>C, NT_167244.1:g.3046717T>C, NR_126423.1:n.582A>G

Select item 14876177845.

rs1487617784 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 6:31767113 (GRCh38)
6:31734890 (GRCh37)
Canonical SPDI:: NC_000006.12:31767112:T:
Gene:: VWA7 (Varview), SAPCD1-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00004/1 (ALFA)
HGVS:: NC_000006.12:g.31767113del, NC_000006.11:g.31734890del, NT_113891.3:g.3244369del, NT_113891.2:g.3244475del, NT_167245.2:g.3014887del, NT_167245.1:g.3020472del, NT_167249.2:g.3066405del, NT_167249.1:g.3065703del, NT_167247.2:g.3109002del, NT_167247.1:g.3114587del, NT_167244.2:g.3099725del, NT_167244.1:g.3049641del

Select item 14875613266.

rs1487561326 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:31764396 (GRCh38)
6:31732173 (GRCh37)
Canonical SPDI:: NC_000006.12:31764395:G:T
Gene:: SAPCD1 (Varview), MSH5-SAPCD1 (Varview), SAPCD1-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,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_000006.12:g.31764396G>T, NC_000006.11:g.31732173G>T, NG_011611.1:g.29400G>T, NT_113891.3:g.3241653G>T, NT_113891.2:g.3241759G>T, NT_167245.2:g.3012170G>T, NT_167245.1:g.3017755G>T, NT_167247.2:g.3106285G>T, NT_167247.1:g.3111870G>T, NT_167249.2:g.3063688G>T, NT_167249.1:g.3062986G>T, NT_167244.2:g.3097008G>T, NT_167244.1:g.3046924G>T, NR_126423.1:n.375C>A

Select item 14874977537.

rs1487497753 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 6:31764878 (GRCh38)
6:31732655 (GRCh37)
Canonical SPDI:: NC_000006.12:31764877:A:T
Gene:: SAPCD1 (Varview), MSH5-SAPCD1 (Varview), SAPCD1-AS1 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.31764878A>T, NC_000006.11:g.31732655A>T, NT_113891.3:g.3242136A>T, NT_113891.2:g.3242242A>T, NT_167245.2:g.3012652A>T, NT_167245.1:g.3018237A>T, NT_167249.2:g.3064170A>T, NT_167249.1:g.3063468A>T, NT_167247.2:g.3106767A>T, NT_167247.1:g.3112352A>T, NT_167244.2:g.3097490A>T, NT_167244.1:g.3047406A>T

Select item 14863119208.

rs1486311920 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:31766956 (GRCh38)
6:31734733 (GRCh37)
Canonical SPDI:: NC_000006.12:31766955:G:T
Gene:: VWA7 (Varview), SAPCD1-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,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_000006.12:g.31766956G>T, NC_000006.11:g.31734733G>T, NT_113891.3:g.3244212G>T, NT_113891.2:g.3244318G>T, NT_167245.2:g.3014730G>T, NT_167245.1:g.3020315G>T, NT_167249.2:g.3066248G>T, NT_167249.1:g.3065546G>T, NT_167247.2:g.3108845G>T, NT_167247.1:g.3114430G>T, NT_167244.2:g.3099568G>T, NT_167244.1:g.3049484G>T

Select item 14843587319.

rs1484358731 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:31766041 (GRCh38)
6:31733818 (GRCh37)
Canonical SPDI:: NC_000006.12:31766040:T:C
Gene:: VWA7 (Varview), SAPCD1-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
HGVS:: NC_000006.12:g.31766041T>C, NC_000006.11:g.31733818T>C, NT_113891.3:g.3243299T>C, NT_113891.2:g.3243405T>C, NT_167245.2:g.3013815T>C, NT_167245.1:g.3019400T>C, NT_167249.2:g.3065333T>C, NT_167249.1:g.3064631T>C, NT_167247.2:g.3107930T>C, NT_167247.1:g.3113515T>C, NT_167244.2:g.3098653T>C, NT_167244.1:g.3048569T>C, NM_025258.3:c.2341A>G, NM_025258.2:c.2341A>G, NP_079534.2:p.Asn781Asp

Select item 148280825210.

rs1482808252 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:31766875 (GRCh38)
6:31734652 (GRCh37)
Canonical SPDI:: NC_000006.12:31766874:T:C
Gene:: VWA7 (Varview), SAPCD1-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.31766875T>C, NC_000006.11:g.31734652T>C, NT_113891.3:g.3244131T>C, NT_113891.2:g.3244237T>C, NT_167245.2:g.3014649T>C, NT_167245.1:g.3020234T>C, NT_167249.2:g.3066167T>C, NT_167249.1:g.3065465T>C, NT_167247.2:g.3108764T>C, NT_167247.1:g.3114349T>C, NT_167244.2:g.3099487T>C, NT_167244.1:g.3049403T>C

Select item 148236252711.

rs1482362527 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:31765223 (GRCh38)
6:31733000 (GRCh37)
Canonical SPDI:: NC_000006.12:31765222:A:C
Gene:: VWA7 (Varview), SAPCD1 (Varview), MSH5-SAPCD1 (Varview), SAPCD1-AS1 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.31765223A>C, NC_000006.11:g.31733000A>C, NT_113891.3:g.3242481A>C, NT_113891.2:g.3242587A>C, NT_167245.2:g.3012997A>C, NT_167245.1:g.3018582A>C, NT_167249.2:g.3064515A>C, NT_167249.1:g.3063813A>C, NT_167247.2:g.3107112A>C, NT_167247.1:g.3112697A>C, NT_167244.2:g.3097835A>C, NT_167244.1:g.3047751A>C

Select item 148050527412.

rs1480505274 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:31764564 (GRCh38)
6:31732341 (GRCh37)
Canonical SPDI:: NC_000006.12:31764563:G:C
Gene:: SAPCD1 (Varview), MSH5-SAPCD1 (Varview), SAPCD1-AS1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.31764564G>C, NC_000006.11:g.31732341G>C, NG_011611.1:g.29568G>C, NT_113891.3:g.3241821G>C, NT_113891.2:g.3241927G>C, NT_167245.2:g.3012338G>C, NT_167245.1:g.3017923G>C, NT_167247.2:g.3106453G>C, NT_167247.1:g.3112038G>C, NT_167249.2:g.3063856G>C, NT_167249.1:g.3063154G>C, NT_167244.2:g.3097176G>C, NT_167244.1:g.3047092G>C, NM_001039651.2:c.*33G>C, NM_001039651.1:c.*33G>C, NR_037846.1:n.3777G>C, NR_126423.1:n.207C>G

Select item 147930107913.

rs1479301079 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:31766456 (GRCh38)
6:31734233 (GRCh37)
Canonical SPDI:: NC_000006.12:31766455:G:A
Gene:: VWA7 (Varview), SAPCD1-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
HGVS:: NC_000006.12:g.31766456G>A, NC_000006.11:g.31734233G>A, NT_113891.3:g.3243712G>A, NT_113891.2:g.3243818G>A, NT_167245.2:g.3014230G>A, NT_167245.1:g.3019815G>A, NT_167249.2:g.3065748G>A, NT_167249.1:g.3065046G>A, NT_167247.2:g.3108345G>A, NT_167247.1:g.3113930G>A, NT_167244.2:g.3099068G>A, NT_167244.1:g.3048984G>A

Select item 147924658514.

rs1479246585 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:31766816 (GRCh38)
6:31734593 (GRCh37)
Canonical SPDI:: NC_000006.12:31766815:A:G
Gene:: VWA7 (Varview), SAPCD1-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.0002/1 (ALFA)
G=0.0002/1 (Estonian)
HGVS:: NC_000006.12:g.31766816A>G, NC_000006.11:g.31734593A>G, NT_113891.3:g.3244072A>G, NT_113891.2:g.3244178A>G, NT_167245.2:g.3014590A>G, NT_167245.1:g.3020175A>G, NT_167249.2:g.3066108A>G, NT_167249.1:g.3065406A>G, NT_167247.2:g.3108705A>G, NT_167247.1:g.3114290A>G, NT_167244.2:g.3099428A>G, NT_167244.1:g.3049344A>G

Select item 147841712615.

rs1478417126 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:31765519 (GRCh38)
6:31733296 (GRCh37)
Canonical SPDI:: NC_000006.12:31765518:T:C
Gene:: VWA7 (Varview), SAPCD1-AS1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.31765519T>C, NC_000006.11:g.31733296T>C, NT_113891.3:g.3242777T>C, NT_113891.2:g.3242883T>C, NT_167245.2:g.3013293T>C, NT_167245.1:g.3018878T>C, NT_167249.2:g.3064811T>C, NT_167249.1:g.3064109T>C, NT_167247.2:g.3107408T>C, NT_167247.1:g.3112993T>C, NT_167244.2:g.3098131T>C, NT_167244.1:g.3048047T>C

Select item 147744079716.

rs1477440797 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:31766065 (GRCh38)
6:31733842 (GRCh37)
Canonical SPDI:: NC_000006.12:31766064:G:C
Gene:: VWA7 (Varview), SAPCD1-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.31766065G>C, NC_000006.11:g.31733842G>C, NT_113891.3:g.3243323G>C, NT_113891.2:g.3243429G>C, NT_167245.2:g.3013839G>C, NT_167245.1:g.3019424G>C, NT_167249.2:g.3065357G>C, NT_167249.1:g.3064655G>C, NT_167247.2:g.3107954G>C, NT_167247.1:g.3113539G>C, NT_167244.2:g.3098677G>C, NT_167244.1:g.3048593G>C

Select item 147742043417.

rs1477420434 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:31766154 (GRCh38)
6:31733931 (GRCh37)
Canonical SPDI:: NC_000006.12:31766153:A:C
Gene:: VWA7 (Varview), SAPCD1-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.31766154A>C, NC_000006.11:g.31733931A>C, NT_113891.3:g.3243412A>C, NT_113891.2:g.3243518A>C, NT_167245.2:g.3013928A>C, NT_167245.1:g.3019513A>C, NT_167249.2:g.3065446A>C, NT_167249.1:g.3064744A>C, NT_167247.2:g.3108043A>C, NT_167247.1:g.3113628A>C, NT_167244.2:g.3098766A>C, NT_167244.1:g.3048682A>C

Select item 147716598018.

rs1477165980 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:31764510 (GRCh38)
6:31732287 (GRCh37)
Canonical SPDI:: NC_000006.12:31764509:A:G
Gene:: SAPCD1 (Varview), MSH5-SAPCD1 (Varview), SAPCD1-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000006.12:g.31764510A>G, NC_000006.11:g.31732287A>G, NG_011611.1:g.29514A>G, NT_113891.3:g.3241767A>G, NT_113891.2:g.3241873A>G, NT_167245.2:g.3012284A>G, NT_167245.1:g.3017869A>G, NT_167247.2:g.3106399A>G, NT_167247.1:g.3111984A>G, NT_167249.2:g.3063802A>G, NT_167249.1:g.3063100A>G, NT_167244.2:g.3097122A>G, NT_167244.1:g.3047038A>G, NM_001039651.2:c.516A>G, NM_001039651.1:c.516A>G, NR_037846.1:n.3723A>G, NR_126423.1:n.261T>C

Select item 147688610419.

rs1476886104 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:31765255 (GRCh38)
6:31733032 (GRCh37)
Canonical SPDI:: NC_000006.12:31765254:T:C
Gene:: VWA7 (Varview), SAPCD1 (Varview), MSH5-SAPCD1 (Varview), SAPCD1-AS1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.31765255T>C, NC_000006.11:g.31733032T>C, NT_113891.3:g.3242513T>C, NT_113891.2:g.3242619T>C, NT_167245.2:g.3013029T>C, NT_167245.1:g.3018614T>C, NT_167249.2:g.3064547T>C, NT_167249.1:g.3063845T>C, NT_167247.2:g.3107144T>C, NT_167247.1:g.3112729T>C, NT_167244.2:g.3097867T>C, NT_167244.1:g.3047783T>C

Select item 147687698620.

rs1476876986 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:31763806 (GRCh38)
6:31731583 (GRCh37)
Canonical SPDI:: NC_000006.12:31763805:T:C
Gene:: SAPCD1 (Varview), MSH5-SAPCD1 (Varview), SAPCD1-AS1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.31763806T>C, NC_000006.11:g.31731583T>C, NG_011611.1:g.28810T>C, NT_113891.3:g.3241063T>C, NT_113891.2:g.3241169T>C, NT_167245.2:g.3011580T>C, NT_167245.1:g.3017165T>C, NT_167247.2:g.3105695T>C, NT_167247.1:g.3111280T>C, NT_167249.2:g.3063098T>C, NT_167249.1:g.3062396T>C, NT_167244.2:g.3096418T>C, NT_167244.1:g.3046334T>C

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dbSNP

Result Filters

Clinical Significance

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