SNP Links for Gene (Select 84460) - SNP

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Select item 14914125001.

rs1491412500 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: X:101921024 (GRCh38)
X:101175998 (GRCh37)
Canonical SPDI:: NC_000023.11:101921024::A
Gene:: ZMAT1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000023.11:g.101921024_101921025insA, NC_000023.10:g.101175997_101175998insA, NG_016330.2:g.15740_15741insT

Select item 14913602072.

rs1491360207 has merged into rs1556306713 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,AAA,AAAA,AAAAAA,AAAAAAAA,AAAAAAAAAA [Show Flanks]
Chromosome:: X:101918487 (GRCh38)
X:101173460 (GRCh37)
Canonical SPDI:: NC_000023.11:101918483:AAAAA:AAA,NC_000023.11:101918483:AAAAA:AAAAAA,NC_000023.11:101918483:AAAAA:AAAAAAA,NC_000023.11:101918483:AAAAA:AAAAAAAAA,NC_000023.11:101918483:AAAAA:AAAAAAAAAAA,NC_000023.11:101918483:AAAAA:AAAAAAAAAAAAA
Gene:: ZMAT1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAA=0./0 (ALFA)
-=0.00009/1 (TOMMO)
HGVS:: NC_000023.11:g.101918487_101918488del, NC_000023.11:g.101918488dup, NC_000023.11:g.101918487_101918488dup, NC_000023.11:g.101918485_101918488dup, NC_000023.11:g.101918488_101918489insAAAAAA, NC_000023.11:g.101918488_101918489insAAAAAAAA, NC_000023.10:g.101173460_101173461del, NC_000023.10:g.101173461dup, NC_000023.10:g.101173460_101173461dup, NC_000023.10:g.101173458_101173461dup, NC_000023.10:g.101173461_101173462insAAAAAA, NC_000023.10:g.101173461_101173462insAAAAAAAA, NG_016330.2:g.18280_18281del, NG_016330.2:g.18281dup, NG_016330.2:g.18280_18281dup, NG_016330.2:g.18278_18281dup, NG_016330.2:g.18281_18282insTTTTTT, NG_016330.2:g.18281_18282insTTTTTTTT

Select item 14912523943.

rs1491252394 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: X:101932408 (GRCh38)
X:101187381 (GRCh37)
Canonical SPDI:: NC_000023.11:101932404:TCTCT:TCT
Gene:: ZMAT1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TCT=0.00008/1 (ALFA)
-=0.00006/6 (GnomAD)
HGVS:: NC_000023.11:g.101932406CT[1], NC_000023.10:g.101187379CT[1], NG_016330.2:g.4357GA[1]

Select item 14911464014.

rs1491146401 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: X:101921024 (GRCh38)
X:101175997 (GRCh37)
Canonical SPDI:: NC_000023.11:101921023:TG:
Gene:: ZMAT1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
HGVS:: NC_000023.11:g.101921024_101921025del, NC_000023.10:g.101175997_101175998del, NG_016330.2:g.15740_15741del

Select item 14911097765.

rs1491109776 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: X:101932405 (GRCh38)
X:101187379 (GRCh37)
Canonical SPDI:: NC_000023.11:101932405:C:CC
Gene:: ZMAT1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000011/1 (GnomAD)
HGVS:: NC_000023.11:g.101932406dup, NC_000023.10:g.101187379dup, NG_016330.2:g.4359dup

Select item 14910858646.

rs1491085864 has merged into rs1461950629 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>-,TATA,TATATA [Show Flanks]
Chromosome:: X:101915366 (GRCh38)
X:101170339 (GRCh37)
Canonical SPDI:: NC_000023.11:101915350:ATATATATATATATATA:ATATATATATATATA,NC_000023.11:101915350:ATATATATATATATATA:ATATATATATATATATATA,NC_000023.11:101915350:ATATATATATATATATA:ATATATATATATATATATATA
Gene:: ZMAT1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATATATATATA=0./0 (ALFA)
ATAT=0.000593/157 (TOPMED)
AT=0.001125/14 (TOMMO)
HGVS:: NC_000023.11:g.101915352TA[7], NC_000023.11:g.101915352TA[9], NC_000023.11:g.101915352TA[10], NC_000023.10:g.101170325TA[7], NC_000023.10:g.101170325TA[9], NC_000023.10:g.101170325TA[10], NG_016330.2:g.21399AT[7], NG_016330.2:g.21399AT[9], NG_016330.2:g.21399AT[10]

Select item 14910030597.

rs1491003059 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:101926281 (GRCh38)
X:101181254 (GRCh37)
Canonical SPDI:: NC_000023.11:101926280:A:G
Gene:: ZMAT1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.101926281A>G, NC_000023.10:g.101181254A>G, NG_016330.2:g.10484T>C

Select item 14909317758.

rs1490931775 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:101924888 (GRCh38)
X:101179861 (GRCh37)
Canonical SPDI:: NC_000023.11:101924887:G:A
Gene:: ZMAT1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.101924888G>A, NC_000023.10:g.101179861G>A, NG_016330.2:g.11877C>T

Select item 14908424089.

rs1490842408 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:101915835 (GRCh38)
X:101170808 (GRCh37)
Canonical SPDI:: NC_000023.11:101915834:G:T
Gene:: ZMAT1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000324/6 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000067/7 (GnomAD)
HGVS:: NC_000023.11:g.101915835G>T, NC_000023.10:g.101170808G>T, NG_016330.2:g.20930C>A

Select item 149080938410.

rs1490809384 has merged into rs1030331225 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATA>-,TA [Show Flanks]
Chromosome:: X:101892828 (GRCh38)
X:101147801 (GRCh37)
Canonical SPDI:: NC_000023.11:101892824:ATATATA:ATA,NC_000023.11:101892824:ATATATA:ATATA
Gene:: ZMAT1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATA=0./0 (ALFA)
-=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.101892826TA[1], NC_000023.11:g.101892826TA[2], NC_000023.10:g.101147799TA[1], NC_000023.10:g.101147799TA[2], NG_016330.2:g.43935AT[1], NG_016330.2:g.43935AT[2], XM_047442574.1:c.-5641AT[1], XM_047442574.1:c.-5641AT[2], XM_047442575.1:c.-707AT[1], XM_047442575.1:c.-707AT[2], XM_047442576.1:c.-134AT[1], XM_047442576.1:c.-134AT[2]

Select item 149078053311.

rs1490780533 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TTGAAGGT [Show Flanks]
Chromosome:: X:101886748 (GRCh38)
X:101141721 (GRCh37)
Canonical SPDI:: NC_000023.11:101886748:T:TTTGAAGGT
Gene:: ZMAT1 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by cluster
MAF:: TTTGAAGG=0.000006/1 (GnomAD_exomes)
TTTGAAGG=0.000088/9 (GnomAD)
HGVS:: NC_000023.11:g.101886749_101886750insTTGAAGGT, NC_000023.10:g.101141721_101141722insTTGAAGGT, NG_016330.2:g.50016_50017insCCTTCAAA, NR_036431.1:n.3473_3474insCCTTCAAA, NM_032441.1:c.-26_-25insCCTTCAAA, XM_047442575.1:c.-26_-25insCCTTCAAA

Select item 149077812712.

rs1490778127 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: X:101891351 (GRCh38)
X:101146323 (GRCh37)
Canonical SPDI:: NC_000023.11:101891350:G:A,NC_000023.11:101891350:G:C
Gene:: ZMAT1 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
C=0.000045/1 (TOMMO)
A=0.000048/5 (GnomAD)
A=0.00006/16 (TOPMED)
HGVS:: NC_000023.11:g.101891351G>A, NC_000023.11:g.101891351G>C, NC_000023.10:g.101146323G>A, NC_000023.10:g.101146323G>C, NG_016330.2:g.45414C>T, NG_016330.2:g.45414C>G, XM_047442574.1:c.-4162C>T, XM_047442574.1:c.-4162C>G

Select item 149069326013.

rs1490693260 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:101914343 (GRCh38)
X:101169316 (GRCh37)
Canonical SPDI:: NC_000023.11:101914342:T:C
Gene:: ZMAT1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.101914343T>C, NC_000023.10:g.101169316T>C, NG_016330.2:g.22422A>G

Select item 149055893714.

rs1490558937 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:101882482 (GRCh38)
X:101137454 (GRCh37)
Canonical SPDI:: NC_000023.11:101882481:A:G
Gene:: ZMAT1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.101882482A>G, NC_000023.10:g.101137454A>G, NG_016330.2:g.54283T>C, NM_001011657.4:c.*1028T>C, NM_001011657.3:c.*1028T>C, NM_001282400.2:c.*1028T>C, NM_001282400.1:c.*1028T>C, NM_001282401.2:c.*1028T>C, NM_001282401.1:c.*1028T>C, NM_001394560.1:c.*1028T>C, XM_005262212.5:c.*1028T>C, XM_005262212.4:c.*1028T>C, XM_005262212.3:c.*1028T>C, XM_005262212.2:c.*1028T>C, XM_005262212.1:c.*1028T>C, XM_005262213.5:c.*1028T>C, XM_005262213.4:c.*1028T>C, XM_005262213.3:c.*1028T>C, XM_005262213.2:c.*1028T>C, XM_005262213.1:c.*1028T>C, XM_005262216.5:c.*1028T>C, XM_005262216.4:c.*1028T>C, XM_005262216.3:c.*1028T>C, XM_005262216.2:c.*1028T>C, XM_005262216.1:c.*1028T>C, XM_006724711.4:c.*1028T>C, XM_006724711.3:c.*1028T>C, XM_006724711.2:c.*1028T>C, XM_006724711.1:c.*1028T>C, XM_017029903.2:c.*1028T>C, XM_017029903.1:c.*1028T>C, XM_047442574.1:c.*1028T>C, NR_036431.1:n.5930T>C, NM_032441.1:c.*1028T>C, XM_047442575.1:c.*1028T>C, XM_047442576.1:c.*1028T>C, NR_046008.1:n.3851T>C, NM_001011656.1:c.*2926T>C, NR_046009.1:n.3798T>C

Select item 149051358915.

rs1490513589 [Homo sapiens]

Variant type:: DEL
Alleles:: GCACTAAGT>- [Show Flanks]
Chromosome:: X:101927224 (GRCh38)
X:101182197 (GRCh37)
Canonical SPDI:: NC_000023.11:101927223:GCACTAAGT:
Gene:: ZMAT1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.101927224_101927232del, NC_000023.10:g.101182197_101182205del, NG_016330.2:g.9533_9541del

Select item 149044495016.

rs1490444950 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:101888388 (GRCh38)
X:101143360 (GRCh37)
Canonical SPDI:: NC_000023.11:101888387:A:G
Gene:: ZMAT1 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000029/3 (GnomAD)
G=0.00003/8 (TOPMED)
G=0.000208/1 (1000Genomes)
HGVS:: NC_000023.11:g.101888388A>G, NC_000023.10:g.101143360A>G, NG_016330.2:g.48377T>C, XM_047442574.1:c.-1199T>C, NR_036431.1:n.1834T>C, NM_032441.1:c.-1665T>C

Select item 149024135617.

rs1490241356 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:101918220 (GRCh38)
X:101173193 (GRCh37)
Canonical SPDI:: NC_000023.11:101918219:A:G
Gene:: ZMAT1 (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_000023.11:g.101918220A>G, NC_000023.10:g.101173193A>G, NG_016330.2:g.18545T>C

Select item 149022596718.

rs1490225967 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: X:101916427 (GRCh38)
X:101171400 (GRCh37)
Canonical SPDI:: NC_000023.11:101916426:A:C
Gene:: ZMAT1 (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=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.101916427A>C, NC_000023.10:g.101171400A>C, NG_016330.2:g.20338T>G

Select item 149010116519.

rs1490101165 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:101905735 (GRCh38)
X:101160708 (GRCh37)
Canonical SPDI:: NC_000023.11:101905734:C:T
Gene:: ZMAT1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.101905735C>T, NC_000023.10:g.101160708C>T, NG_016330.2:g.31030G>A

Select item 149002519220.

rs1490025192 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: X:101917408 (GRCh38)
X:101172381 (GRCh37)
Canonical SPDI:: NC_000023.11:101917407:A:T
Gene:: ZMAT1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
HGVS:: NC_000023.11:g.101917408A>T, NC_000023.10:g.101172381A>T, NG_016330.2:g.19357T>A

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