SNP Links for Gene (Select 56204) - SNP

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Select item 14914634731.

rs1491463473 has merged into rs33958734 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 15:52638709 (GRCh38)
15:52930906 (GRCh37)
Canonical SPDI:: NC_000015.10:52638698:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000015.10:52638698:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:52638698:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000015.10:52638698:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000015.10:52638698:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000015.10:52638698:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000015.10:52638698:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000015.10:52638698:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:52638698:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: FAM214A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000015.10:g.52638709_52638718del, NC_000015.10:g.52638714_52638718del, NC_000015.10:g.52638715_52638718del, NC_000015.10:g.52638716_52638718del, NC_000015.10:g.52638717_52638718del, NC_000015.10:g.52638718del, NC_000015.10:g.52638718dup, NC_000015.10:g.52638717_52638718dup, NC_000015.10:g.52638712_52638718dup, NC_000015.9:g.52930906_52930915del, NC_000015.9:g.52930911_52930915del, NC_000015.9:g.52930912_52930915del, NC_000015.9:g.52930913_52930915del, NC_000015.9:g.52930914_52930915del, NC_000015.9:g.52930915del, NC_000015.9:g.52930915dup, NC_000015.9:g.52930914_52930915dup, NC_000015.9:g.52930909_52930915dup

Select item 14913683082.

rs1491368308 has merged into rs66511443 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCATTCATTCATTCAT>-,TCAT,TCATTCAT,TCATTCATTCAT,TCATTCATTCATTCATTCAT,TCATTCATTCATTCATTCATTCAT,TCATTCATTCATTCATTCATTCATTCAT,TCATTCATTCATTCATTCATTCATTCATTCAT,TCATTCATTCATTCATTCATTCATTCATTCATTCAT,TCATTCATTCATTCATTCATTCATTCATTCATTCATTCAT,TCATTCATTCATTCATTCATTCATTCATTCATTCATTCATTCAT [Show Flanks]
Chromosome:: 15:52583407 (GRCh38)
15:52875604 (GRCh37)
Canonical SPDI:: NC_000015.10:52583390:TCATTCATTCATTCATTCATTCATTCATTCAT:TCATTCATTCATTCAT,NC_000015.10:52583390:TCATTCATTCATTCATTCATTCATTCATTCAT:TCATTCATTCATTCATTCAT,NC_000015.10:52583390:TCATTCATTCATTCATTCATTCATTCATTCAT:TCATTCATTCATTCATTCATTCAT,NC_000015.10:52583390:TCATTCATTCATTCATTCATTCATTCATTCAT:TCATTCATTCATTCATTCATTCATTCAT,NC_000015.10:52583390:TCATTCATTCATTCATTCATTCATTCATTCAT:TCATTCATTCATTCATTCATTCATTCATTCATTCAT,NC_000015.10:52583390:TCATTCATTCATTCATTCATTCATTCATTCAT:TCATTCATTCATTCATTCATTCATTCATTCATTCATTCAT,NC_000015.10:52583390:TCATTCATTCATTCATTCATTCATTCATTCAT:TCATTCATTCATTCATTCATTCATTCATTCATTCATTCATTCAT,NC_000015.10:52583390:TCATTCATTCATTCATTCATTCATTCATTCAT:TCATTCATTCATTCATTCATTCATTCATTCATTCATTCATTCATTCAT,NC_000015.10:52583390:TCATTCATTCATTCATTCATTCATTCATTCAT:TCATTCATTCATTCATTCATTCATTCATTCATTCATTCATTCATTCATTCAT,NC_000015.10:52583390:TCATTCATTCATTCATTCATTCATTCATTCAT:TCATTCATTCATTCATTCATTCATTCATTCATTCATTCATTCATTCATTCATTCAT,NC_000015.10:52583390:TCATTCATTCATTCATTCATTCATTCATTCAT:TCATTCATTCATTCATTCATTCATTCATTCATTCATTCATTCATTCATTCATTCATTCAT
Gene:: FAM214A (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCATTCATTCATTCATTCAT=0./0 (ALFA)
TCATTCATTCATTCATTCATTCAT=0.000079/21 (TOPMED)
HGVS:: NC_000015.10:g.52583391TCAT[4], NC_000015.10:g.52583391TCAT[5], NC_000015.10:g.52583391TCAT[6], NC_000015.10:g.52583391TCAT[7], NC_000015.10:g.52583391TCAT[9], NC_000015.10:g.52583391TCAT[10], NC_000015.10:g.52583391TCAT[11], NC_000015.10:g.52583391TCAT[12], NC_000015.10:g.52583391TCAT[13], NC_000015.10:g.52583391TCAT[14], NC_000015.10:g.52583391TCAT[15], NC_000015.9:g.52875588TCAT[4], NC_000015.9:g.52875588TCAT[5], NC_000015.9:g.52875588TCAT[6], NC_000015.9:g.52875588TCAT[7], NC_000015.9:g.52875588TCAT[9], NC_000015.9:g.52875588TCAT[10], NC_000015.9:g.52875588TCAT[11], NC_000015.9:g.52875588TCAT[12], NC_000015.9:g.52875588TCAT[13], NC_000015.9:g.52875588TCAT[14], NC_000015.9:g.52875588TCAT[15]

Select item 14913668613.

rs1491366861 [Homo sapiens]

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

Select item 14913264674.

rs1491326467 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 15:52594695 (GRCh38)
15:52886892 (GRCh37)
Canonical SPDI:: NC_000015.10:52594694:CA:
Gene:: FAM214A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.52594695_52594696del, NC_000015.9:g.52886892_52886893del

Select item 14913210215.

rs1491321021 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 15:52594660 (GRCh38)
15:52886857 (GRCh37)
Canonical SPDI:: NC_000015.10:52594659:AT:
Gene:: FAM214A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: -=0.000029/4 (GnomAD)
HGVS:: NC_000015.10:g.52594660_52594661del, NC_000015.9:g.52886857_52886858del

Select item 14913164676.

rs1491316467 has merged into rs66511443 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCATTCATTCATTCAT>-,TCAT,TCATTCAT,TCATTCATTCAT,TCATTCATTCATTCATTCAT,TCATTCATTCATTCATTCATTCAT,TCATTCATTCATTCATTCATTCATTCAT,TCATTCATTCATTCATTCATTCATTCATTCAT,TCATTCATTCATTCATTCATTCATTCATTCATTCAT,TCATTCATTCATTCATTCATTCATTCATTCATTCATTCAT,TCATTCATTCATTCATTCATTCATTCATTCATTCATTCATTCAT [Show Flanks]
Chromosome:: 15:52583407 (GRCh38)
15:52875604 (GRCh37)
Canonical SPDI:: NC_000015.10:52583390:TCATTCATTCATTCATTCATTCATTCATTCAT:TCATTCATTCATTCAT,NC_000015.10:52583390:TCATTCATTCATTCATTCATTCATTCATTCAT:TCATTCATTCATTCATTCAT,NC_000015.10:52583390:TCATTCATTCATTCATTCATTCATTCATTCAT:TCATTCATTCATTCATTCATTCAT,NC_000015.10:52583390:TCATTCATTCATTCATTCATTCATTCATTCAT:TCATTCATTCATTCATTCATTCATTCAT,NC_000015.10:52583390:TCATTCATTCATTCATTCATTCATTCATTCAT:TCATTCATTCATTCATTCATTCATTCATTCATTCAT,NC_000015.10:52583390:TCATTCATTCATTCATTCATTCATTCATTCAT:TCATTCATTCATTCATTCATTCATTCATTCATTCATTCAT,NC_000015.10:52583390:TCATTCATTCATTCATTCATTCATTCATTCAT:TCATTCATTCATTCATTCATTCATTCATTCATTCATTCATTCAT,NC_000015.10:52583390:TCATTCATTCATTCATTCATTCATTCATTCAT:TCATTCATTCATTCATTCATTCATTCATTCATTCATTCATTCATTCAT,NC_000015.10:52583390:TCATTCATTCATTCATTCATTCATTCATTCAT:TCATTCATTCATTCATTCATTCATTCATTCATTCATTCATTCATTCATTCAT,NC_000015.10:52583390:TCATTCATTCATTCATTCATTCATTCATTCAT:TCATTCATTCATTCATTCATTCATTCATTCATTCATTCATTCATTCATTCATTCAT,NC_000015.10:52583390:TCATTCATTCATTCATTCATTCATTCATTCAT:TCATTCATTCATTCATTCATTCATTCATTCATTCATTCATTCATTCATTCATTCATTCAT
Gene:: FAM214A (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCATTCATTCATTCATTCAT=0./0 (ALFA)
TCATTCATTCATTCATTCATTCAT=0.000079/21 (TOPMED)
HGVS:: NC_000015.10:g.52583391TCAT[4], NC_000015.10:g.52583391TCAT[5], NC_000015.10:g.52583391TCAT[6], NC_000015.10:g.52583391TCAT[7], NC_000015.10:g.52583391TCAT[9], NC_000015.10:g.52583391TCAT[10], NC_000015.10:g.52583391TCAT[11], NC_000015.10:g.52583391TCAT[12], NC_000015.10:g.52583391TCAT[13], NC_000015.10:g.52583391TCAT[14], NC_000015.10:g.52583391TCAT[15], NC_000015.9:g.52875588TCAT[4], NC_000015.9:g.52875588TCAT[5], NC_000015.9:g.52875588TCAT[6], NC_000015.9:g.52875588TCAT[7], NC_000015.9:g.52875588TCAT[9], NC_000015.9:g.52875588TCAT[10], NC_000015.9:g.52875588TCAT[11], NC_000015.9:g.52875588TCAT[12], NC_000015.9:g.52875588TCAT[13], NC_000015.9:g.52875588TCAT[14], NC_000015.9:g.52875588TCAT[15]

Select item 14912082807.

rs1491208280 has merged into rs11298916 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTTT [Show Flanks]
Chromosome:: 15:52694178 (GRCh38)
15:52986375 (GRCh37)
Canonical SPDI:: NC_000015.10:52694168:TTTTTTTTTTTTTTT:TTTTTTTTT,NC_000015.10:52694168:TTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000015.10:52694168:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000015.10:52694168:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000015.10:52694168:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000015.10:52694168:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000015.10:52694168:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT
Gene:: FAM214A (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000015.10:g.52694178_52694183del, NC_000015.10:g.52694179_52694183del, NC_000015.10:g.52694180_52694183del, NC_000015.10:g.52694181_52694183del, NC_000015.10:g.52694182_52694183del, NC_000015.10:g.52694183del, NC_000015.10:g.52694183dup, NC_000015.9:g.52986375_52986380del, NC_000015.9:g.52986376_52986380del, NC_000015.9:g.52986377_52986380del, NC_000015.9:g.52986378_52986380del, NC_000015.9:g.52986379_52986380del, NC_000015.9:g.52986380del, NC_000015.9:g.52986380dup

Select item 14911548188.

rs1491154818 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AA [Show Flanks]
Chromosome:: 15:52594695 (GRCh38)
15:52886893 (GRCh37)
Canonical SPDI:: NC_000015.10:52594695:A:AAA
Gene:: FAM214A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: AAA=0./0 (ALFA)
AA=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.52594696_52594697insAA, NC_000015.9:g.52886893_52886894insAA

Select item 14910936709.

rs1491093670 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 15:52638698 (GRCh38)
15:52930895 (GRCh37)
Canonical SPDI:: NC_000015.10:52638697:CA:
Gene:: FAM214A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.0129/153 (ALFA)
-=0.00217/39 (GnomAD)
HGVS:: NC_000015.10:g.52638698_52638699del, NC_000015.9:g.52930895_52930896del

Select item 149100421010.

rs1491004210 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 15:52707816 (GRCh38)
15:53000013 (GRCh37)
Canonical SPDI:: NC_000015.10:52707815:A:C
Gene:: FAM214A (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_000015.10:g.52707816A>C, NC_000015.9:g.53000013A>C

Select item 149100194411.

rs1491001944 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TA,TATA [Show Flanks]
Chromosome:: 15:52694148 (GRCh38)
15:52986346 (GRCh37)
Canonical SPDI:: NC_000015.10:52694148:TATATATA:TATATATATA,NC_000015.10:52694148:TATATATA:TATATATATATA
Gene:: FAM214A (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TATATATATATA=0./0 (ALFA)
HGVS:: NC_000015.10:g.52694149TA[5], NC_000015.10:g.52694149TA[6], NC_000015.9:g.52986346TA[5], NC_000015.9:g.52986346TA[6]

Select item 149099571112.

rs1490995711 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 15:52683508 (GRCh38)
15:52975705 (GRCh37)
Canonical SPDI:: NC_000015.10:52683507:T:A
Gene:: FAM214A (Varview), LOC105370821 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.52683508T>A, NC_000015.9:g.52975705T>A

Select item 149098094513.

rs1490980945 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 15:52639033 (GRCh38)
15:52931230 (GRCh37)
Canonical SPDI:: NC_000015.10:52639032:C:A,NC_000015.10:52639032:C:G
Gene:: FAM214A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
A=0.01336/39 (KOREAN)
HGVS:: NC_000015.10:g.52639033C>A, NC_000015.10:g.52639033C>G, NC_000015.9:g.52931230C>A, NC_000015.9:g.52931230C>G

Select item 149095006514.

rs1490950065 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 15:52680600 (GRCh38)
15:52972797 (GRCh37)
Canonical SPDI:: NC_000015.10:52680599:C:G,NC_000015.10:52680599:C:T
Gene:: FAM214A (Varview), LOC105370821 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000054/1 (ALFA)
G=0.000015/4 (TOPMED)
T=0.000223/1 (Estonian)
HGVS:: NC_000015.10:g.52680600C>G, NC_000015.10:g.52680600C>T, NC_000015.9:g.52972797C>G, NC_000015.9:g.52972797C>T

Select item 149093743715.

rs1490937437 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:52709020 (GRCh38)
15:53001217 (GRCh37)
Canonical SPDI:: NC_000015.10:52709019:G:A
Gene:: FAM214A (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.52709020G>A, NC_000015.9:g.53001217G>A

Select item 149092304016.

rs1490923040 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:52638096 (GRCh38)
15:52930293 (GRCh37)
Canonical SPDI:: NC_000015.10:52638095:A:G
Gene:: FAM214A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.52638096A>G, NC_000015.9:g.52930293A>G

Select item 149090446817.

rs1490904468 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 15:52607848 (GRCh38)
15:52900045 (GRCh37)
Canonical SPDI:: NC_000015.10:52607847:G:C
Gene:: FAM214A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000015.10:g.52607848G>C, NC_000015.9:g.52900045G>C

Select item 149089551818.

rs1490895518 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:52662133 (GRCh38)
15:52954330 (GRCh37)
Canonical SPDI:: NC_000015.10:52662132:A:G
Gene:: FAM214A (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_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_000015.10:g.52662133A>G, NC_000015.9:g.52954330A>G

Select item 149088266119.

rs1490882661 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:52594169 (GRCh38)
15:52886366 (GRCh37)
Canonical SPDI:: NC_000015.10:52594168:A:G
Gene:: FAM214A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.52594169A>G, NC_000015.9:g.52886366A>G

Select item 149085187120.

rs1490851871 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 15:52676765 (GRCh38)
15:52968962 (GRCh37)
Canonical SPDI:: NC_000015.10:52676764:T:G
Gene:: FAM214A (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.52676765T>G, NC_000015.9:g.52968962T>G

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