SNP Links for Gene (Select 126074) - SNP

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Select item 14915458491.

rs1491545849 [Homo sapiens]

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

Select item 14913033462.

rs1491303346 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 19:11373589 (GRCh38)
19:11484265 (GRCh37)
Canonical SPDI:: NC_000019.10:11373588:TA:
Gene:: SWSAP1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by cluster
HGVS:: NC_000019.10:g.11373589_11373590del, NC_000019.9:g.11484265_11484266del

Select item 14912487273.

rs1491248727 has merged into rs77717891 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA [Show Flanks]
Chromosome:: 19:11376517 (GRCh38)
19:11487193 (GRCh37)
Canonical SPDI:: NC_000019.10:11376502:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:11376502:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:11376502:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:11376502:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:11376502:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:11376502:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:11376502:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:11376502:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:11376502:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:11376502:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SWSAP1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.005747/3 (NorthernSweden)
HGVS:: NC_000019.10:g.11376517_11376522del, NC_000019.10:g.11376518_11376522del, NC_000019.10:g.11376519_11376522del, NC_000019.10:g.11376520_11376522del, NC_000019.10:g.11376521_11376522del, NC_000019.10:g.11376522del, NC_000019.10:g.11376522dup, NC_000019.10:g.11376521_11376522dup, NC_000019.10:g.11376520_11376522dup, NC_000019.10:g.11376518_11376522dup, NC_000019.9:g.11487193_11487198del, NC_000019.9:g.11487194_11487198del, NC_000019.9:g.11487195_11487198del, NC_000019.9:g.11487196_11487198del, NC_000019.9:g.11487197_11487198del, NC_000019.9:g.11487198del, NC_000019.9:g.11487198dup, NC_000019.9:g.11487197_11487198dup, NC_000019.9:g.11487196_11487198dup, NC_000019.9:g.11487194_11487198dup, NG_021395.1:g.12835_12840del, NG_021395.1:g.12836_12840del, NG_021395.1:g.12837_12840del, NG_021395.1:g.12838_12840del, NG_021395.1:g.12839_12840del, NG_021395.1:g.12840del, NG_021395.1:g.12840dup, NG_021395.1:g.12839_12840dup, NG_021395.1:g.12838_12840dup, NG_021395.1:g.12836_12840dup, NM_175871.3:c.*501_*506del, NM_175871.3:c.*502_*506del, NM_175871.3:c.*503_*506del, NM_175871.3:c.*504_*506del, NM_175871.3:c.*505_*506del, NM_175871.3:c.*506del, NM_175871.3:c.*506dup, NM_175871.3:c.*505_*506dup, NM_175871.3:c.*504_*506dup, NM_175871.3:c.*502_*506dup

Select item 14908609954.

rs1490860995 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:11375504 (GRCh38)
19:11486180 (GRCh37)
Canonical SPDI:: NC_000019.10:11375503:T:A
Gene:: SWSAP1 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000019.10:g.11375504T>A, NC_000019.9:g.11486180T>A, NG_021395.1:g.13839A>T

Select item 14904759715.

rs1490475971 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:11373124 (GRCh38)
19:11483800 (GRCh37)
Canonical SPDI:: NC_000019.10:11373123:G:A
Gene:: SWSAP1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_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_000019.10:g.11373124G>A, NC_000019.9:g.11483800G>A

Select item 14890787346.

rs1489078734 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:11375660 (GRCh38)
19:11486336 (GRCh37)
Canonical SPDI:: NC_000019.10:11375659:G:A,NC_000019.10:11375659:G:C
Gene:: SWSAP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.11375660G>A, NC_000019.10:g.11375660G>C, NC_000019.9:g.11486336G>A, NC_000019.9:g.11486336G>C, NG_021395.1:g.13683C>T, NG_021395.1:g.13683C>G, NM_175871.4:c.397G>A, NM_175871.4:c.397G>C, NM_175871.3:c.334G>A, NM_175871.3:c.334G>C, NP_787067.3:p.Ala133Thr, NP_787067.3:p.Ala133Pro

Select item 14889329497.

rs1488932949 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:11376759 (GRCh38)
19:11487435 (GRCh37)
Canonical SPDI:: NC_000019.10:11376758:C:A,NC_000019.10:11376758:C:T
Gene:: EPOR (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000053/14 (TOPMED)
HGVS:: NC_000019.10:g.11376759C>A, NC_000019.10:g.11376759C>T, NC_000019.9:g.11487435C>A, NC_000019.9:g.11487435C>T, NG_021395.1:g.12584G>T, NG_021395.1:g.12584G>A, NM_175871.3:c.*743C>A, NM_175871.3:c.*743C>T

Select item 14886581468.

rs1488658146 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:11374883 (GRCh38)
19:11485559 (GRCh37)
Canonical SPDI:: NC_000019.10:11374882:G:A
Gene:: SWSAP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.11374883G>A, NC_000019.9:g.11485559G>A, NM_175871.4:c.203G>A, NM_175871.3:c.140G>A, NP_787067.3:p.Ser68Asn

Select item 14876666239.

rs1487666623 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 19:11375239 (GRCh38)
19:11485915 (GRCh37)
Canonical SPDI:: NC_000019.10:11375238:A:G,NC_000019.10:11375238:A:T
Gene:: SWSAP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.11375239A>G, NC_000019.10:g.11375239A>T, NC_000019.9:g.11485915A>G, NC_000019.9:g.11485915A>T, NG_021395.1:g.14104T>C, NG_021395.1:g.14104T>A

Select item 148738596710.

rs1487385967 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:11376378 (GRCh38)
19:11487054 (GRCh37)
Canonical SPDI:: NC_000019.10:11376377:C:G,NC_000019.10:11376377:C:T
Gene:: SWSAP1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000019.10:g.11376378C>G, NC_000019.10:g.11376378C>T, NC_000019.9:g.11487054C>G, NC_000019.9:g.11487054C>T, NG_021395.1:g.12965G>C, NG_021395.1:g.12965G>A, NM_175871.3:c.*362C>G, NM_175871.3:c.*362C>T

Select item 148723069511.

rs1487230695 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:11374820 (GRCh38)
19:11485496 (GRCh37)
Canonical SPDI:: NC_000019.10:11374819:C:A,NC_000019.10:11374819:C:T
Gene:: SWSAP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.11374820C>A, NC_000019.10:g.11374820C>T, NC_000019.9:g.11485496C>A, NC_000019.9:g.11485496C>T, NM_175871.4:c.140C>A, NM_175871.4:c.140C>T, NM_175871.3:c.77C>A, NM_175871.3:c.77C>T, NP_787067.3:p.Ala47Asp, NP_787067.3:p.Ala47Val

Select item 148702804912.

rs1487028049 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:11373602 (GRCh38)
19:11484278 (GRCh37)
Canonical SPDI:: NC_000019.10:11373601:G:C
Gene:: SWSAP1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000066/1 (ALFA)
C=0.000021/3 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000019.10:g.11373602G>C, NC_000019.9:g.11484278G>C

Select item 148675412113.

rs1486754121 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:11376749 (GRCh38)
19:11487425 (GRCh37)
Canonical SPDI:: NC_000019.10:11376748:G:A
Gene:: EPOR (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0./0 (GnomAD)
A=0.000019/5 (TOPMED)
A=0.000071/1 (TOMMO)
HGVS:: NC_000019.10:g.11376749G>A, NC_000019.9:g.11487425G>A, NG_021395.1:g.12594C>T, NM_175871.3:c.*733G>A

Select item 148582495614.

rs1485824956 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 19:11376963 (GRCh38)
19:11487640 (GRCh37)
Canonical SPDI:: NC_000019.10:11376963::T
Gene:: EPOR (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency
MAF:: T=0.000258/36 (GnomAD)
HGVS:: NC_000019.10:g.11376963_11376964insT, NC_000019.9:g.11487639_11487640insT, NG_021395.1:g.12379_12380insA

Select item 148581903215.

rs1485819032 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:11376085 (GRCh38)
19:11486761 (GRCh37)
Canonical SPDI:: NC_000019.10:11376084:T:C
Gene:: SWSAP1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.11376085T>C, NC_000019.9:g.11486761T>C, NG_021395.1:g.13258A>G, NM_175871.4:c.*69T>C, NM_175871.3:c.*69T>C

Select item 148570859816.

rs1485708598 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:11376245 (GRCh38)
19:11486921 (GRCh37)
Canonical SPDI:: NC_000019.10:11376244:A:G
Gene:: SWSAP1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_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_000019.10:g.11376245A>G, NC_000019.9:g.11486921A>G, NG_021395.1:g.13098T>C, NM_175871.3:c.*229A>G

Select item 148480559017.

rs1484805590 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 19:11373053 (GRCh38)
19:11483729 (GRCh37)
Canonical SPDI:: NC_000019.10:11373052:T:A,NC_000019.10:11373052:T:C
Gene:: SWSAP1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.11373053T>A, NC_000019.10:g.11373053T>C, NC_000019.9:g.11483729T>A, NC_000019.9:g.11483729T>C

Select item 148438111018.

rs1484381110 [Homo sapiens]

Variant type:: DEL
Alleles:: TTTGATGGACAGATTCCTAG>- [Show Flanks]
Chromosome:: 19:11374563 (GRCh38)
19:11485239 (GRCh37)
Canonical SPDI:: NC_000019.10:11374562:TTTGATGGACAGATTCCTAG:
Gene:: SWSAP1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.00005/7 (GnomAD)
-=0.000076/20 (TOPMED)
HGVS:: NC_000019.10:g.11374563_11374582del, NC_000019.9:g.11485239_11485258del

Select item 148386630319.

rs1483866303 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:11377030 (GRCh38)
19:11487706 (GRCh37)
Canonical SPDI:: NC_000019.10:11377029:A:C
Gene:: EPOR (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.11377030A>C, NC_000019.9:g.11487706A>C, NG_021395.1:g.12313T>G

Select item 148209581820.

rs1482095818 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:11377281 (GRCh38)
19:11487957 (GRCh37)
Canonical SPDI:: NC_000019.10:11377280:G:A,NC_000019.10:11377280:G:C
Gene:: EPOR (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000108/2 (ALFA)
A=0.00003/8 (TOPMED)
A=0.000043/6 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000019.10:g.11377281G>A, NC_000019.10:g.11377281G>C, NC_000019.9:g.11487957G>A, NC_000019.9:g.11487957G>C, NG_021395.1:g.12062C>T, NG_021395.1:g.12062C>G, NM_000121.4:c.*703C>T, NM_000121.4:c.*703C>G, NM_000121.3:c.*703C>T, NM_000121.3:c.*703C>G, NR_033663.2:n.2587C>T, NR_033663.2:n.2587C>G, NR_033663.1:n.2615C>T, NR_033663.1:n.2615C>G

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