SNP Links for Gene (Select 388324) - SNP

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Select item 14915786211.

rs1491578621 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 17:4995217 (GRCh38)
17:4898512 (GRCh37)
Canonical SPDI:: NC_000017.11:4995216:AG:
Gene:: INCA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000035/1 (TOMMO)
HGVS:: NC_000017.11:g.4995217_4995218del, NC_000017.10:g.4898512_4898513del, NG_034137.1:g.2270_2271del

Select item 14915277042.

rs1491527704 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 17:4996666 (GRCh38)
17:4899961 (GRCh37)
Canonical SPDI:: NC_000017.11:4996665:CA:
Gene:: KIF1C (Varview), INCA1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.0075/89 (ALFA)
-=0.00053/20 (GnomAD)
-=0.00092/23 (TOMMO)
HGVS:: NC_000017.11:g.4996666_4996667del, NC_000017.10:g.4899961_4899962del, NG_034137.1:g.3719_3720del

Select item 14914008143.

rs1491400814 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 17:4994789 (GRCh38)
17:4898084 (GRCh37)
Canonical SPDI:: NC_000017.11:4994788:CA:
Gene:: INCA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.02757/327 (ALFA)
-=0.00115/48 (GnomAD)
-=0.00148/41 (TOMMO)
HGVS:: NC_000017.11:g.4994789_4994790del, NC_000017.10:g.4898084_4898085del, NG_034137.1:g.1842_1843del

Select item 14913896974.

rs1491389697 has merged into rs35732129 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:4996678 (GRCh38)
17:4899973 (GRCh37)
Canonical SPDI:: NC_000017.11:4996666:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:4996666:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:4996666:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:4996666:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:4996666:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:4996666:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:4996666:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:4996666:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:4996666:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:4996666:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:4996666:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:4996666:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:4996666:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:4996666:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:4996666:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:4996666:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:4996666:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:4996666:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:4996666:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:4996666:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:4996666:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:4996666:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:4996666:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:4996666:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:4996666:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:4996666:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:4996666:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:4996666:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: KIF1C (Varview), INCA1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.25/10 (GENOME_DK)
HGVS:: NC_000017.11:g.4996678_4996691del, NC_000017.11:g.4996679_4996691del, NC_000017.11:g.4996680_4996691del, NC_000017.11:g.4996681_4996691del, NC_000017.11:g.4996682_4996691del, NC_000017.11:g.4996683_4996691del, NC_000017.11:g.4996684_4996691del, NC_000017.11:g.4996685_4996691del, NC_000017.11:g.4996686_4996691del, NC_000017.11:g.4996687_4996691del, NC_000017.11:g.4996688_4996691del, NC_000017.11:g.4996689_4996691del, NC_000017.11:g.4996690_4996691del, NC_000017.11:g.4996691del, NC_000017.11:g.4996691dup, NC_000017.11:g.4996690_4996691dup, NC_000017.11:g.4996689_4996691dup, NC_000017.11:g.4996688_4996691dup, NC_000017.11:g.4996687_4996691dup, NC_000017.11:g.4996686_4996691dup, NC_000017.11:g.4996685_4996691dup, NC_000017.11:g.4996684_4996691dup, NC_000017.11:g.4996683_4996691dup, NC_000017.11:g.4996682_4996691dup, NC_000017.11:g.4996680_4996691dup, NC_000017.11:g.4996679_4996691dup, NC_000017.11:g.4996678_4996691dup, NC_000017.11:g.4996691_4996692insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.4899973_4899986del, NC_000017.10:g.4899974_4899986del, NC_000017.10:g.4899975_4899986del, NC_000017.10:g.4899976_4899986del, NC_000017.10:g.4899977_4899986del, NC_000017.10:g.4899978_4899986del, NC_000017.10:g.4899979_4899986del, NC_000017.10:g.4899980_4899986del, NC_000017.10:g.4899981_4899986del, NC_000017.10:g.4899982_4899986del, NC_000017.10:g.4899983_4899986del, NC_000017.10:g.4899984_4899986del, NC_000017.10:g.4899985_4899986del, NC_000017.10:g.4899986del, NC_000017.10:g.4899986dup, NC_000017.10:g.4899985_4899986dup, NC_000017.10:g.4899984_4899986dup, NC_000017.10:g.4899983_4899986dup, NC_000017.10:g.4899982_4899986dup, NC_000017.10:g.4899981_4899986dup, NC_000017.10:g.4899980_4899986dup, NC_000017.10:g.4899979_4899986dup, NC_000017.10:g.4899978_4899986dup, NC_000017.10:g.4899977_4899986dup, NC_000017.10:g.4899975_4899986dup, NC_000017.10:g.4899974_4899986dup, NC_000017.10:g.4899973_4899986dup, NC_000017.10:g.4899986_4899987insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_034137.1:g.3731_3744del, NG_034137.1:g.3732_3744del, NG_034137.1:g.3733_3744del, NG_034137.1:g.3734_3744del, NG_034137.1:g.3735_3744del, NG_034137.1:g.3736_3744del, NG_034137.1:g.3737_3744del, NG_034137.1:g.3738_3744del, NG_034137.1:g.3739_3744del, NG_034137.1:g.3740_3744del, NG_034137.1:g.3741_3744del, NG_034137.1:g.3742_3744del, NG_034137.1:g.3743_3744del, NG_034137.1:g.3744del, NG_034137.1:g.3744dup, NG_034137.1:g.3743_3744dup, NG_034137.1:g.3742_3744dup, NG_034137.1:g.3741_3744dup, NG_034137.1:g.3740_3744dup, NG_034137.1:g.3739_3744dup, NG_034137.1:g.3738_3744dup, NG_034137.1:g.3737_3744dup, NG_034137.1:g.3736_3744dup, NG_034137.1:g.3735_3744dup, NG_034137.1:g.3733_3744dup, NG_034137.1:g.3732_3744dup, NG_034137.1:g.3731_3744dup, NG_034137.1:g.3744_3745insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14913834515.

rs1491383451 has merged into rs34186821 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAA>-,AA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:4994799 (GRCh38)
17:4898094 (GRCh37)
Canonical SPDI:: NC_000017.11:4994789:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000017.11:4994789:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:4994789:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:4994789:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:4994789:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:4994789:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:4994789:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:4994789:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:4994789:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:4994789:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:4994789:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:4994789:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:4994789:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:4994789:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:4994789:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:4994789:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:4994789:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: INCA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000017.11:g.4994799_4994813del, NC_000017.11:g.4994801_4994813del, NC_000017.11:g.4994803_4994813del, NC_000017.11:g.4994804_4994813del, NC_000017.11:g.4994805_4994813del, NC_000017.11:g.4994807_4994813del, NC_000017.11:g.4994808_4994813del, NC_000017.11:g.4994809_4994813del, NC_000017.11:g.4994810_4994813del, NC_000017.11:g.4994811_4994813del, NC_000017.11:g.4994812_4994813del, NC_000017.11:g.4994813del, NC_000017.11:g.4994813dup, NC_000017.11:g.4994812_4994813dup, NC_000017.11:g.4994811_4994813dup, NC_000017.11:g.4994810_4994813dup, NC_000017.11:g.4994808_4994813dup, NC_000017.10:g.4898094_4898108del, NC_000017.10:g.4898096_4898108del, NC_000017.10:g.4898098_4898108del, NC_000017.10:g.4898099_4898108del, NC_000017.10:g.4898100_4898108del, NC_000017.10:g.4898102_4898108del, NC_000017.10:g.4898103_4898108del, NC_000017.10:g.4898104_4898108del, NC_000017.10:g.4898105_4898108del, NC_000017.10:g.4898106_4898108del, NC_000017.10:g.4898107_4898108del, NC_000017.10:g.4898108del, NC_000017.10:g.4898108dup, NC_000017.10:g.4898107_4898108dup, NC_000017.10:g.4898106_4898108dup, NC_000017.10:g.4898105_4898108dup, NC_000017.10:g.4898103_4898108dup, NG_034137.1:g.1852_1866del, NG_034137.1:g.1854_1866del, NG_034137.1:g.1856_1866del, NG_034137.1:g.1857_1866del, NG_034137.1:g.1858_1866del, NG_034137.1:g.1860_1866del, NG_034137.1:g.1861_1866del, NG_034137.1:g.1862_1866del, NG_034137.1:g.1863_1866del, NG_034137.1:g.1864_1866del, NG_034137.1:g.1865_1866del, NG_034137.1:g.1866del, NG_034137.1:g.1866dup, NG_034137.1:g.1865_1866dup, NG_034137.1:g.1864_1866dup, NG_034137.1:g.1863_1866dup, NG_034137.1:g.1861_1866dup

Select item 14913592626.

rs1491359262 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 17:4994812 (GRCh38)
17:4898108 (GRCh37)
Canonical SPDI:: NC_000017.11:4994812::G
Gene:: INCA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000337/4 (ALFA)
G=0.000319/41 (GnomAD)
HGVS:: NC_000017.11:g.4994812_4994813insG, NC_000017.10:g.4898107_4898108insG, NG_034137.1:g.1865_1866insG

Select item 14912264037.

rs1491226403 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 17:4995217 (GRCh38)
17:4898513 (GRCh37)
Canonical SPDI:: NC_000017.11:4995217:GG:GGG
Gene:: INCA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GGG=0.000071/1 (ALFA)
G=0.000036/5 (GnomAD)
HGVS:: NC_000017.11:g.4995219dup, NC_000017.10:g.4898514dup, NG_034137.1:g.2272dup

Select item 14908829128.

rs1490882912 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:4991778 (GRCh38)
17:4895073 (GRCh37)
Canonical SPDI:: NC_000017.11:4991777:G:C
Gene:: INCA1 (Varview), CAMTA2-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.4991778G>C, NC_000017.10:g.4895073G>C, XR_001752769.2:n.4678G>C

Select item 14908598079.

rs1490859807 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:4993659 (GRCh38)
17:4896954 (GRCh37)
Canonical SPDI:: NC_000017.11:4993658:C:T
Gene:: INCA1 (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_000017.11:g.4993659C>T, NC_000017.10:g.4896954C>T, NG_034137.1:g.712C>T

Select item 149078449310.

rs1490784493 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:4997375 (GRCh38)
17:4900670 (GRCh37)
Canonical SPDI:: NC_000017.11:4997374:C:G
Gene:: KIF1C (Varview), INCA1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0./0 (GnomAD)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.4997375C>G, NC_000017.10:g.4900670C>G, NG_034137.1:g.4428C>G

Select item 148985129211.

rs1489851292 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 17:4990897 (GRCh38)
17:4894193 (GRCh37)
Canonical SPDI:: NC_000017.11:4990897:AAAAAA:AAAAAAA
Gene:: INCA1 (Varview), CAMTA2-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: AAAAAAA=0./0 (ALFA)
A=0.000019/5 (TOPMED)
HGVS:: NC_000017.11:g.4990903dup, NC_000017.10:g.4894198dup, XR_001752769.2:n.3803dup

Select item 148965491212.

rs1489654912 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>-,CCC [Show Flanks]
Chromosome:: 17:4993616 (GRCh38)
17:4896911 (GRCh37)
Canonical SPDI:: NC_000017.11:4993614:CCC:C,NC_000017.11:4993614:CCC:CCCC
Gene:: INCA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00012/2 (ALFA)
HGVS:: NC_000017.11:g.4993616_4993617del, NC_000017.11:g.4993617dup, NC_000017.10:g.4896911_4896912del, NC_000017.10:g.4896912dup, NG_034137.1:g.669_670del, NG_034137.1:g.670dup

Select item 148962463713.

rs1489624637 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:4992783 (GRCh38)
17:4896078 (GRCh37)
Canonical SPDI:: NC_000017.11:4992782:C:G
Gene:: INCA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.4992783C>G, NC_000017.10:g.4896078C>G

Select item 148961799614.

rs1489617996 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 17:4995534 (GRCh38)
17:4898829 (GRCh37)
Canonical SPDI:: NC_000017.11:4995533:C:A,NC_000017.11:4995533:C:G,NC_000017.11:4995533:C:T
Gene:: INCA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.4995534C>A, NC_000017.11:g.4995534C>G, NC_000017.11:g.4995534C>T, NC_000017.10:g.4898829C>A, NC_000017.10:g.4898829C>G, NC_000017.10:g.4898829C>T, NG_034137.1:g.2587C>A, NG_034137.1:g.2587C>G, NG_034137.1:g.2587C>T

Select item 148955244015.

rs1489552440 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:4988500 (GRCh38)
17:4891795 (GRCh37)
Canonical SPDI:: NC_000017.11:4988499:G:T
Gene:: CAMTA2 (Varview), INCA1 (Varview), CAMTA2-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,non_coding_transcript_variant,3_prime_UTR_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.4988500G>T, NC_000017.10:g.4891795G>T, XM_005256628.6:c.616C>A, XM_005256628.5:c.616C>A, XM_005256628.4:c.616C>A, XM_005256628.3:c.616C>A, XM_005256628.2:c.616C>A, XM_005256628.1:c.616C>A, NM_213726.3:c.571C>A, NM_213726.2:c.571C>A, XM_011523834.3:c.*403C>A, XR_001752769.2:n.1494G>T, XR_001752769.1:n.1510G>T, NM_001167986.2:c.616C>A, NM_001167986.1:c.616C>A, NM_001167987.2:c.616C>A, NM_001167987.1:c.616C>A, NM_001167985.2:c.571C>A, NM_001167985.1:c.571C>A, NM_001394788.1:c.616C>A, NM_001394790.1:c.571C>A, NM_001394789.1:c.616C>A, NM_001394791.1:c.571C>A, XP_005256685.1:p.Gln206Lys, NP_998891.2:p.Gln191Lys, NP_001161458.1:p.Gln206Lys, NP_001161459.1:p.Gln206Lys, NP_001161457.1:p.Gln191Lys, NP_001381717.1:p.Gln206Lys, NP_001381719.1:p.Gln191Lys, NP_001381718.1:p.Gln206Lys, NP_001381720.1:p.Gln191Lys

Select item 148929922016.

rs1489299220 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 17:4988938 (GRCh38)
17:4892233 (GRCh37)
Canonical SPDI:: NC_000017.11:4988937:C:
Gene:: CAMTA2 (Varview), INCA1 (Varview), CAMTA2-AS1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
HGVS:: NC_000017.11:g.4988938del, NC_000017.10:g.4892233del, XM_005256628.6:c.402del, XM_005256628.5:c.402del, XM_005256628.4:c.402del, XM_005256628.3:c.402del, XM_005256628.2:c.402del, XM_005256628.1:c.402del, NM_213726.3:c.357del, NM_213726.2:c.357del, XM_011523834.3:c.418del, XM_011523834.2:c.418del, XM_011523834.1:c.418del, XR_001752769.2:n.1838del, XR_001752769.1:n.1854del, NM_001167986.2:c.402del, NM_001167986.1:c.402del, NM_001167987.2:c.402del, NM_001167987.1:c.402del, NM_001167985.2:c.357del, NM_001167985.1:c.357del, NM_001394788.1:c.402del, NM_001394790.1:c.357del, NM_001394789.1:c.402del, NM_001394791.1:c.357del, XP_005256685.1:p.Lys135fs, NP_998891.2:p.Lys120fs, XP_011522136.1:p.Glu140fs, NP_001161458.1:p.Lys135fs, NP_001161459.1:p.Lys135fs, NP_001161457.1:p.Lys120fs, NP_001381717.1:p.Lys135fs, NP_001381719.1:p.Lys120fs, NP_001381718.1:p.Lys135fs, NP_001381720.1:p.Lys120fs

Select item 148910404117.

rs1489104041 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 17:4993793 (GRCh38)
17:4897089 (GRCh37)
Canonical SPDI:: NC_000017.11:4993793:T:TT
Gene:: INCA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/1 (GnomAD)
HGVS:: NC_000017.11:g.4993794dup, NC_000017.10:g.4897089dup, NG_034137.1:g.847dup

Select item 148866238618.

rs1488662386 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:4993555 (GRCh38)
17:4896850 (GRCh37)
Canonical SPDI:: NC_000017.11:4993554:G:A
Gene:: INCA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000022/3 (GnomAD)
HGVS:: NC_000017.11:g.4993555G>A, NC_000017.10:g.4896850G>A, NG_034137.1:g.608G>A

Select item 148831846019.

rs1488318460 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:4998622 (GRCh38)
17:4901917 (GRCh37)
Canonical SPDI:: NC_000017.11:4998621:T:A
Gene:: KIF1C (Varview), INCA1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.4998622T>A, NC_000017.10:g.4901917T>A, NG_034137.1:g.5675T>A

Select item 148817693320.

rs1488176933 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:4997639 (GRCh38)
17:4900934 (GRCh37)
Canonical SPDI:: NC_000017.11:4997638:G:A
Gene:: KIF1C (Varview), INCA1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.4997639G>A, NC_000017.10:g.4900934G>A, NG_034137.1:g.4692G>A

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