SNP Links for Gene (Select 646498) - SNP

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Select item 14915695861.

rs1491569586 has merged into rs59290830 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 3:49180942 (GRCh38)
3:49218375 (GRCh37)
Canonical SPDI:: NC_000003.12:49180929:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:49180929:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:49180929:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:49180929:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:49180929:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:49180929:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:49180929:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:49180929:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:49180929:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:49180929:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:49180929:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:49180929:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:49180929:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:49180929:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:49180929:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:49180929:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: C3orf84 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000003.12:g.49180942_49180951del, NC_000003.12:g.49180943_49180951del, NC_000003.12:g.49180944_49180951del, NC_000003.12:g.49180945_49180951del, NC_000003.12:g.49180946_49180951del, NC_000003.12:g.49180947_49180951del, NC_000003.12:g.49180948_49180951del, NC_000003.12:g.49180949_49180951del, NC_000003.12:g.49180950_49180951del, NC_000003.12:g.49180951del, NC_000003.12:g.49180951dup, NC_000003.12:g.49180950_49180951dup, NC_000003.12:g.49180949_49180951dup, NC_000003.12:g.49180948_49180951dup, NC_000003.12:g.49180947_49180951dup, NC_000003.12:g.49180946_49180951dup, NC_000003.11:g.49218375_49218384del, NC_000003.11:g.49218376_49218384del, NC_000003.11:g.49218377_49218384del, NC_000003.11:g.49218378_49218384del, NC_000003.11:g.49218379_49218384del, NC_000003.11:g.49218380_49218384del, NC_000003.11:g.49218381_49218384del, NC_000003.11:g.49218382_49218384del, NC_000003.11:g.49218383_49218384del, NC_000003.11:g.49218384del, NC_000003.11:g.49218384dup, NC_000003.11:g.49218383_49218384dup, NC_000003.11:g.49218382_49218384dup, NC_000003.11:g.49218381_49218384dup, NC_000003.11:g.49218380_49218384dup, NC_000003.11:g.49218379_49218384dup

Select item 14914101572.

rs1491410157 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 3:49180929 (GRCh38)
3:49218362 (GRCh37)
Canonical SPDI:: NC_000003.12:49180928:CA:
Gene:: C3orf84 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00185/22 (ALFA)
HGVS:: NC_000003.12:g.49180929_49180930del, NC_000003.11:g.49218362_49218363del

Select item 14909357793.

rs1490935779 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:49182401 (GRCh38)
3:49219834 (GRCh37)
Canonical SPDI:: NC_000003.12:49182400:C:T
Gene:: C3orf84 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.49182401C>T, NC_000003.11:g.49219834C>T

Select item 14909226264.

rs1490922626 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:49187262 (GRCh38)
3:49224695 (GRCh37)
Canonical SPDI:: NC_000003.12:49187261:C:T
Gene:: C3orf84 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000066/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000223/1 (Estonian)
HGVS:: NC_000003.12:g.49187262C>T, NC_000003.11:g.49224695C>T

Select item 14908918435.

rs1490891843 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 3:49185705 (GRCh38)
3:49223138 (GRCh37)
Canonical SPDI:: NC_000003.12:49185704:C:A,NC_000003.12:49185704:C:T
Gene:: C3orf84 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.002329/38 (ALFA)
A=0.000004/1 (TOPMED)
T=0.015743/46 (KOREAN)
HGVS:: NC_000003.12:g.49185705C>A, NC_000003.12:g.49185705C>T, NC_000003.11:g.49223138C>A, NC_000003.11:g.49223138C>T

Select item 14908893606.

rs1490889360 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 3:49183132 (GRCh38)
3:49220565 (GRCh37)
Canonical SPDI:: NC_000003.12:49183131:G:
Gene:: C3orf84 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000014/2 (GnomAD)
-=0.00463/1 (Vietnamese)
HGVS:: NC_000003.12:g.49183132del, NC_000003.11:g.49220565del

Select item 14906396007.

rs1490639600 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:49190455 (GRCh38)
3:49227888 (GRCh37)
Canonical SPDI:: NC_000003.12:49190454:T:G
Gene:: IHO1 (Varview), C3orf84 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.49190455T>G, NC_000003.11:g.49227888T>G

Select item 14904467278.

rs1490446727 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 3:49182784 (GRCh38)
3:49220217 (GRCh37)
Canonical SPDI:: NC_000003.12:49182783:C:A,NC_000003.12:49182783:C:T
Gene:: C3orf84 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000003.12:g.49182784C>A, NC_000003.12:g.49182784C>T, NC_000003.11:g.49220217C>A, NC_000003.11:g.49220217C>T

Select item 14898494639.

rs1489849463 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:49190954 (GRCh38)
3:49228387 (GRCh37)
Canonical SPDI:: NC_000003.12:49190953:A:G
Gene:: IHO1 (Varview), C3orf84 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.49190954A>G, NC_000003.11:g.49228387A>G

Select item 148970353810.

rs1489703538 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:49186362 (GRCh38)
3:49223795 (GRCh37)
Canonical SPDI:: NC_000003.12:49186361:T:C
Gene:: C3orf84 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000015/2 (GnomAD)
C=0.00924/27 (KOREAN)
HGVS:: NC_000003.12:g.49186362T>C, NC_000003.11:g.49223795T>C

Select item 148955553511.

rs1489555535 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 3:49178435 (GRCh38)
3:49215868 (GRCh37)
Canonical SPDI:: NC_000003.12:49178434:C:
Gene:: C3orf84 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.49178435del, NC_000003.11:g.49215868del, NG_027702.1:g.11851del

Select item 148924812212.

rs1489248122 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,AA [Show Flanks]
Chromosome:: 3:49193654 (GRCh38)
3:49231088 (GRCh37)
Canonical SPDI:: NC_000003.12:49193654::A,NC_000003.12:49193654::AA
Gene:: IHO1 (Varview), C3orf84 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
HGVS:: NC_000003.12:g.49193654_49193655insA, NC_000003.12:g.49193654_49193655insAA, NC_000003.11:g.49231087_49231088insA, NC_000003.11:g.49231087_49231088insAA

Select item 148911478813.

rs1489114788 [Homo sapiens]

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

Select item 148893939114.

rs1488939391 has merged into rs71077770 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 3:49193666 (GRCh38)
3:49231099 (GRCh37)
Canonical SPDI:: NC_000003.12:49193655:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000003.12:49193655:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:49193655:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:49193655:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:49193655:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:49193655:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:49193655:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:49193655:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:49193655:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:49193655:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:49193655:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:49193655:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:49193655:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:49193655:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:49193655:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:49193655:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:49193655:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:49193655:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:49193655:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: IHO1 (Varview), C3orf84 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
AAAAAAAAAAAAAAAA=0./0 (GENOME_DK)
A=0.4075/2041 (1000Genomes)
HGVS:: NC_000003.12:g.49193666_49193681del, NC_000003.12:g.49193668_49193681del, NC_000003.12:g.49193669_49193681del, NC_000003.12:g.49193670_49193681del, NC_000003.12:g.49193671_49193681del, NC_000003.12:g.49193672_49193681del, NC_000003.12:g.49193673_49193681del, NC_000003.12:g.49193674_49193681del, NC_000003.12:g.49193675_49193681del, NC_000003.12:g.49193676_49193681del, NC_000003.12:g.49193677_49193681del, NC_000003.12:g.49193678_49193681del, NC_000003.12:g.49193679_49193681del, NC_000003.12:g.49193680_49193681del, NC_000003.12:g.49193681del, NC_000003.12:g.49193681dup, NC_000003.12:g.49193680_49193681dup, NC_000003.12:g.49193679_49193681dup, NC_000003.12:g.49193678_49193681dup, NC_000003.11:g.49231099_49231114del, NC_000003.11:g.49231101_49231114del, NC_000003.11:g.49231102_49231114del, NC_000003.11:g.49231103_49231114del, NC_000003.11:g.49231104_49231114del, NC_000003.11:g.49231105_49231114del, NC_000003.11:g.49231106_49231114del, NC_000003.11:g.49231107_49231114del, NC_000003.11:g.49231108_49231114del, NC_000003.11:g.49231109_49231114del, NC_000003.11:g.49231110_49231114del, NC_000003.11:g.49231111_49231114del, NC_000003.11:g.49231112_49231114del, NC_000003.11:g.49231113_49231114del, NC_000003.11:g.49231114del, NC_000003.11:g.49231114dup, NC_000003.11:g.49231113_49231114dup, NC_000003.11:g.49231112_49231114dup, NC_000003.11:g.49231111_49231114dup

Select item 148880328515.

rs1488803285 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:49182034 (GRCh38)
3:49219467 (GRCh37)
Canonical SPDI:: NC_000003.12:49182033:T:C
Gene:: C3orf84 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.49182034T>C, NC_000003.11:g.49219467T>C

Select item 148878768016.

rs1488787680 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:49189738 (GRCh38)
3:49227171 (GRCh37)
Canonical SPDI:: NC_000003.12:49189737:T:C
Gene:: IHO1 (Varview), C3orf84 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_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_000003.12:g.49189738T>C, NC_000003.11:g.49227171T>C

Select item 148856650517.

rs1488566505 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 3:49178866 (GRCh38)
3:49216299 (GRCh37)
Canonical SPDI:: NC_000003.12:49178865:C:G,NC_000003.12:49178865:C:T
Gene:: C3orf84 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0./0 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000003.12:g.49178866C>G, NC_000003.12:g.49178866C>T, NC_000003.11:g.49216299C>G, NC_000003.11:g.49216299C>T

Select item 148826935218.

rs1488269352 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:49194381 (GRCh38)
3:49231814 (GRCh37)
Canonical SPDI:: NC_000003.12:49194380:G:A
Gene:: IHO1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000337/4 (ALFA)
A=0.000185/49 (TOPMED)
A=0.000203/27 (GnomAD)
HGVS:: NC_000003.12:g.49194381G>A, NC_000003.11:g.49231814G>A

Select item 148792196719.

rs1487921967 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:49177887 (GRCh38)
3:49215320 (GRCh37)
Canonical SPDI:: NC_000003.12:49177886:C:G
Gene:: C3orf84 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.49177887C>G, NC_000003.11:g.49215320C>G, NG_027702.1:g.11303C>G, XM_011534015.3:c.367G>C, XM_011534015.2:c.367G>C, XM_011534015.1:c.367G>C, NM_001080528.3:c.364G>C, NM_001080528.2:c.364G>C, XM_011534017.3:c.253G>C, XM_011534017.2:c.253G>C, XM_011534017.1:c.253G>C, XP_011532317.1:p.Gly123Arg, NP_001073997.2:p.Gly122Arg, XP_011532319.1:p.Gly85Arg

Select item 148789849920.

rs1487898499 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:49184810 (GRCh38)
3:49222243 (GRCh37)
Canonical SPDI:: NC_000003.12:49184809:A:G
Gene:: C3orf84 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.49184810A>G, NC_000003.11:g.49222243A>G

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