SNP Links for Gene (Select 401124) - SNP

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Select item 14915890831.

rs1491589083 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 4:36314747 (GRCh38)
4:36316369 (GRCh37)
Canonical SPDI:: NC_000004.12:36314746:GT:
Gene:: DTHD1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00042/5 (ALFA)
-=0.00049/47 (GnomAD)
HGVS:: NC_000004.12:g.36314747_36314748del, NC_000004.11:g.36316369_36316370del, NG_032962.1:g.38133_38134del

Select item 14913121602.

rs1491312160 has merged into rs201334706 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,TT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 4:36326971 (GRCh38)
4:36328593 (GRCh37)
Canonical SPDI:: NC_000004.12:36326962:TTTTTTTTTTTTTTT:TTTTTTTT,NC_000004.12:36326962:TTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000004.12:36326962:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000004.12:36326962:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:36326962:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:36326962:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000004.12:36326962:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:36326962:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000004.12:36326962:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000004.12:36326962:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000004.12:36326962:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:36326962:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: DTHD1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.25/10 (GENOME_DK)
HGVS:: NC_000004.12:g.36326971_36326977del, NC_000004.12:g.36326973_36326977del, NC_000004.12:g.36326975_36326977del, NC_000004.12:g.36326976_36326977del, NC_000004.12:g.36326977del, NC_000004.12:g.36326977dup, NC_000004.12:g.36326976_36326977dup, NC_000004.12:g.36326975_36326977dup, NC_000004.12:g.36326974_36326977dup, NC_000004.12:g.36326973_36326977dup, NC_000004.12:g.36326969_36326977dup, NC_000004.12:g.36326977_36326978insTTTTTTTTTTTTTTTTTT, NC_000004.11:g.36328593_36328599del, NC_000004.11:g.36328595_36328599del, NC_000004.11:g.36328597_36328599del, NC_000004.11:g.36328598_36328599del, NC_000004.11:g.36328599del, NC_000004.11:g.36328599dup, NC_000004.11:g.36328598_36328599dup, NC_000004.11:g.36328597_36328599dup, NC_000004.11:g.36328596_36328599dup, NC_000004.11:g.36328595_36328599dup, NC_000004.11:g.36328591_36328599dup, NC_000004.11:g.36328599_36328600insTTTTTTTTTTTTTTTTTT, NG_032962.1:g.50357_50363del, NG_032962.1:g.50359_50363del, NG_032962.1:g.50361_50363del, NG_032962.1:g.50362_50363del, NG_032962.1:g.50363del, NG_032962.1:g.50363dup, NG_032962.1:g.50362_50363dup, NG_032962.1:g.50361_50363dup, NG_032962.1:g.50360_50363dup, NG_032962.1:g.50359_50363dup, NG_032962.1:g.50355_50363dup, NG_032962.1:g.50363_50364insTTTTTTTTTTTTTTTTTT

Select item 14911144483.

rs1491114448 [Homo sapiens]

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

Select item 14910482424.

rs1491048242 [Homo sapiens]

Variant type:: INS
Alleles:: ->TTT [Show Flanks]
Chromosome:: 4:36284545 (GRCh38)
4:36286168 (GRCh37)
Canonical SPDI:: NC_000004.12:36284545::TTT
Gene:: DTHD1 (Varview)
Functional Consequence:: intron_variant,inframe_indel,non_coding_transcript_variant,coding_sequence_variant
HGVS:: NC_000004.12:g.36284545_36284546insTTT, NC_000004.11:g.36286167_36286168insTTT, NG_032962.1:g.7931_7932insTTT, NM_001170700.2:c.466_467insTTT, NM_001170700.3:c.841_842insTTT, XM_011513693.3:c.841_842insTTT, XM_011513693.2:c.841_842insTTT, XM_011513693.1:c.841_842insTTT, XM_011513694.3:c.841_842insTTT, XM_011513694.2:c.841_842insTTT, XM_011513694.1:c.841_842insTTT, XM_011513695.3:c.841_842insTTT, XM_011513695.2:c.841_842insTTT, XM_011513695.1:c.841_842insTTT, NR_165630.1:n.984_985insTTT, NR_160267.1:n.984_985insTTT, XR_007057923.1:n.984_985insTTT, NP_001164171.2:p.Asn281delinsIleTyr, XP_011511995.1:p.Asn281delinsIleTyr, XP_011511996.1:p.Asn281delinsIleTyr, XP_011511997.1:p.Asn281delinsIleTyr

Select item 14910169455.

rs1491016945 has merged into rs34007292 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 4:36313427 (GRCh38)
4:36315049 (GRCh37)
Canonical SPDI:: NC_000004.12:36313417:AAAAAAAAAAAAAAA:AAAAAAAAA,NC_000004.12:36313417:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:36313417:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:36313417:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:36313417:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:36313417:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:36313417:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:36313417:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:36313417:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: DTHD1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.4427/2217 (1000Genomes)
HGVS:: NC_000004.12:g.36313427_36313432del, NC_000004.12:g.36313430_36313432del, NC_000004.12:g.36313431_36313432del, NC_000004.12:g.36313432del, NC_000004.12:g.36313432dup, NC_000004.12:g.36313431_36313432dup, NC_000004.12:g.36313430_36313432dup, NC_000004.12:g.36313429_36313432dup, NC_000004.12:g.36313419_36313432dup, NC_000004.11:g.36315049_36315054del, NC_000004.11:g.36315052_36315054del, NC_000004.11:g.36315053_36315054del, NC_000004.11:g.36315054del, NC_000004.11:g.36315054dup, NC_000004.11:g.36315053_36315054dup, NC_000004.11:g.36315052_36315054dup, NC_000004.11:g.36315051_36315054dup, NC_000004.11:g.36315041_36315054dup, NG_032962.1:g.36813_36818del, NG_032962.1:g.36816_36818del, NG_032962.1:g.36817_36818del, NG_032962.1:g.36818del, NG_032962.1:g.36818dup, NG_032962.1:g.36817_36818dup, NG_032962.1:g.36816_36818dup, NG_032962.1:g.36815_36818dup, NG_032962.1:g.36805_36818dup

Select item 14908736946.

rs1490873694 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:36346996 (GRCh38)
4:36348618 (GRCh37)
Canonical SPDI:: NC_000004.12:36346995:T:C
Gene:: DTHD1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000004.12:g.36346996T>C, NC_000004.11:g.36348618T>C, NM_001136536.5:c.*3172T>C, XM_011513693.3:c.*3172T>C, XM_011513693.2:c.*3172T>C, NM_001170700.3:c.*3172T>C, XM_011513694.3:c.*3172T>C, XM_011513694.2:c.*3172T>C, XM_011513695.3:c.*3172T>C, XM_011513695.2:c.*3172T>C, XM_011513696.3:c.*3172T>C, XM_011513696.2:c.*3172T>C, NR_165630.1:n.6207T>C, NR_160267.1:n.6055T>C, XM_047415676.1:c.*3172T>C, NM_001378435.1:c.*3183T>C

Select item 14908410917.

rs1490841091 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:36307023 (GRCh38)
4:36308645 (GRCh37)
Canonical SPDI:: NC_000004.12:36307022:C:T
Gene:: DTHD1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000004.12:g.36307023C>T, NC_000004.11:g.36308645C>T, NG_032962.1:g.30409C>T, XR_007057923.1:n.2113C>T

Select item 14908179068.

rs1490817906 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:36329327 (GRCh38)
4:36330949 (GRCh37)
Canonical SPDI:: NC_000004.12:36329326:G:A
Gene:: DTHD1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_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_000004.12:g.36329327G>A, NC_000004.11:g.36330949G>A, NG_032962.1:g.52713G>A

Select item 14908020259.

rs1490802025 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:36314503 (GRCh38)
4:36316125 (GRCh37)
Canonical SPDI:: NC_000004.12:36314502:C:T
Gene:: DTHD1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000016/2 (GnomAD)
HGVS:: NC_000004.12:g.36314503C>T, NC_000004.11:g.36316125C>T, NG_032962.1:g.37889C>T

Select item 149079591410.

rs1490795914 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:36288727 (GRCh38)
4:36290349 (GRCh37)
Canonical SPDI:: NC_000004.12:36288726:A:G
Gene:: DTHD1 (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_000004.12:g.36288727A>G, NC_000004.11:g.36290349A>G, NG_032962.1:g.12113A>G

Select item 149076388011.

rs1490763880 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:36330502 (GRCh38)
4:36332124 (GRCh37)
Canonical SPDI:: NC_000004.12:36330501:A:G
Gene:: DTHD1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.36330502A>G, NC_000004.11:g.36332124A>G, NG_032962.1:g.53888A>G

Select item 149073973812.

rs1490739738 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 4:36327600 (GRCh38)
4:36329222 (GRCh37)
Canonical SPDI:: NC_000004.12:36327599:T:G
Gene:: DTHD1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.36327600T>G, NC_000004.11:g.36329222T>G, NG_032962.1:g.50986T>G

Select item 149070495613.

rs1490704956 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 4:36313494 (GRCh38)
4:36315116 (GRCh37)
Canonical SPDI:: NC_000004.12:36313493:CC:C
Gene:: DTHD1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.36313495del, NC_000004.11:g.36315117del, NG_032962.1:g.36881del

Select item 149063899814.

rs1490638998 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:36288276 (GRCh38)
4:36289898 (GRCh37)
Canonical SPDI:: NC_000004.12:36288275:T:C
Gene:: DTHD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: C=0./0 (Korea1K)
C=0.00018/3 (TOMMO)
C=0.00103/3 (KOREAN)
HGVS:: NC_000004.12:g.36288276T>C, NC_000004.11:g.36289898T>C, NG_032962.1:g.11662T>C

Select item 149063568415.

rs1490635684 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:36332463 (GRCh38)
4:36334085 (GRCh37)
Canonical SPDI:: NC_000004.12:36332462:A:G
Gene:: DTHD1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: G=0.0105/19 (Korea1K)
HGVS:: NC_000004.12:g.36332463A>G, NC_000004.11:g.36334085A>G, NG_032962.1:g.55849A>G

Select item 149063104416.

rs1490631044 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 4:36290087 (GRCh38)
4:36291709 (GRCh37)
Canonical SPDI:: NC_000004.12:36290086:T:A
Gene:: DTHD1 (Varview)
Functional Consequence:: 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_000004.12:g.36290087T>A, NC_000004.11:g.36291709T>A, NG_032962.1:g.13473T>A

Select item 149058292917.

rs1490582929 has merged into rs371743029 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 4:36328724 (GRCh38)
4:36330347 (GRCh37)
Canonical SPDI:: NC_000004.12:36328724:AAAAAAA:AAAAAAAA
Gene:: DTHD1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
A=0.000038/10 (TOPMED)
A=0.00005/7 (GnomAD)
HGVS:: NC_000004.12:g.36328731dup, NC_000004.11:g.36330353dup, NG_032962.1:g.52117dup

Select item 149055564118.

rs1490555641 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 4:36292594 (GRCh38)
4:36294216 (GRCh37)
Canonical SPDI:: NC_000004.12:36292593:G:A,NC_000004.12:36292593:G:C
Gene:: DTHD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.00034/1 (KOREAN)
HGVS:: NC_000004.12:g.36292594G>A, NC_000004.12:g.36292594G>C, NC_000004.11:g.36294216G>A, NC_000004.11:g.36294216G>C, NG_032962.1:g.15980G>A, NG_032962.1:g.15980G>C

Select item 149047537519.

rs1490475375 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:36345266 (GRCh38)
4:36346888 (GRCh37)
Canonical SPDI:: NC_000004.12:36345265:T:C
Gene:: DTHD1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.36345266T>C, NC_000004.11:g.36346888T>C, NG_032962.1:g.68652T>C, NM_001136536.5:c.*1442T>C, NM_001136536.3:c.*1442T>C, XM_011513693.3:c.*1442T>C, XM_011513693.2:c.*1442T>C, XM_011513693.1:c.*1442T>C, NM_001170700.3:c.*1442T>C, XM_011513694.3:c.*1442T>C, XM_011513694.2:c.*1442T>C, XM_011513694.1:c.*1442T>C, XM_011513695.3:c.*1442T>C, XM_011513695.2:c.*1442T>C, XM_011513695.1:c.*1442T>C, XM_011513696.3:c.*1442T>C, XM_011513696.2:c.*1442T>C, XM_011513696.1:c.*1442T>C, NR_165630.1:n.4477T>C, NR_160267.1:n.4325T>C, XM_047415676.1:c.*1442T>C, NM_001378435.1:c.*1453T>C

Select item 149046159020.

rs1490461590 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 4:36297832 (GRCh38)
4:36299454 (GRCh37)
Canonical SPDI:: NC_000004.12:36297831:T:A
Gene:: DTHD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.00004/1 (TOMMO)
HGVS:: NC_000004.12:g.36297832T>A, NC_000004.11:g.36299454T>A, NG_032962.1:g.21218T>A

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