SNP Links for Gene (Select 27201) - SNP

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Select item 14909899541.

rs1490989954 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:8587520 (GRCh38)
4:8589247 (GRCh37)
Canonical SPDI:: NC_000004.12:8587519:T:C
Gene:: GPR78 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_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_000004.12:g.8587520T>C, NC_000004.11:g.8589247T>C, NM_080819.5:c.*157T>C, NM_080819.4:c.*157T>C, NR_045511.3:n.894T>C, NR_045511.2:n.1049T>C

Select item 14904977352.

rs1490497735 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:8587825 (GRCh38)
4:8589552 (GRCh37)
Canonical SPDI:: NC_000004.12:8587824:C:T
Gene:: GPR78 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000035/1 (TOMMO)
T=0.000038/10 (TOPMED)
HGVS:: NC_000004.12:g.8587825C>T, NC_000004.11:g.8589552C>T, NM_080819.5:c.*462C>T, NM_080819.4:c.*462C>T, NR_045511.3:n.1199C>T, NR_045511.2:n.1354C>T

Select item 14903876313.

rs1490387631 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 4:8581630 (GRCh38)
4:8583357 (GRCh37)
Canonical SPDI:: NC_000004.12:8581629:G:A,NC_000004.12:8581629:G:T
Gene:: GPR78 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.8581630G>A, NC_000004.12:g.8581630G>T, NC_000004.11:g.8583357G>A, NC_000004.11:g.8583357G>T, NM_080819.5:c.648G>A, NM_080819.5:c.648G>T, NM_080819.4:c.648G>A, NM_080819.4:c.648G>T

Select item 14902678684.

rs1490267868 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:8578836 (GRCh38)
4:8580563 (GRCh37)
Canonical SPDI:: NC_000004.12:8578835:G:T
Gene:: GPR78 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.8578836G>T, NC_000004.11:g.8580563G>T

Select item 14899871955.

rs1489987195 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 4:8581332 (GRCh38)
4:8583059 (GRCh37)
Canonical SPDI:: NC_000004.12:8581331:G:A,NC_000004.12:8581331:G:T
Gene:: GPR78 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.00011/2 (TOMMO)
HGVS:: NC_000004.12:g.8581332G>A, NC_000004.12:g.8581332G>T, NC_000004.11:g.8583059G>A, NC_000004.11:g.8583059G>T, NM_080819.5:c.350G>A, NM_080819.5:c.350G>T, NM_080819.4:c.350G>A, NM_080819.4:c.350G>T, NP_543009.2:p.Arg117His, NP_543009.2:p.Arg117Leu

Select item 14892544106.

rs1489254410 has merged into rs1256222895 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>-,TGTG [Show Flanks]
Chromosome:: 4:8588501 (GRCh38)
4:8590228 (GRCh37)
Canonical SPDI:: NC_000004.12:8588491:GTGTGTGTGTG:GTGTGTGTG,NC_000004.12:8588491:GTGTGTGTGTG:GTGTGTGTGTGTG
Gene:: GPR78 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTG=0./0 (ALFA)
GT=0.00007/2 (TOMMO)
HGVS:: NC_000004.12:g.8588493TG[4], NC_000004.12:g.8588493TG[6], NC_000004.11:g.8590220TG[4], NC_000004.11:g.8590220TG[6], NM_080819.5:c.*1130TG[4], NM_080819.5:c.*1130TG[6], NM_080819.4:c.*1130TG[4], NM_080819.4:c.*1130TG[6], NR_045511.3:n.1867TG[4], NR_045511.3:n.1867TG[6], NR_045511.2:n.2022TG[4], NR_045511.2:n.2022TG[6]

Select item 14891249027.

rs1489124902 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:8580449 (GRCh38)
4:8582176 (GRCh37)
Canonical SPDI:: NC_000004.12:8580448:G:A
Gene:: GPR78 (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_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.8580449G>A, NC_000004.11:g.8582176G>A, NM_080819.5:c.-534G>A, NR_045511.3:n.58G>A, NR_045511.2:n.213G>A

Select item 14889843088.

rs1488984308 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:8585862 (GRCh38)
4:8587589 (GRCh37)
Canonical SPDI:: NC_000004.12:8585861:C:T
Gene:: GPR78 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.8585862C>T, NC_000004.11:g.8587589C>T

Select item 14889838589.

rs1488983858 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:8578590 (GRCh38)
4:8580317 (GRCh37)
Canonical SPDI:: NC_000004.12:8578589:A:G
Gene:: GPR78 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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.8578590A>G, NC_000004.11:g.8580317A>G

Select item 148884885610.

rs1488848856 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:8584429 (GRCh38)
4:8586156 (GRCh37)
Canonical SPDI:: NC_000004.12:8584428:G:A
Gene:: GPR78 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.8584429G>A, NC_000004.11:g.8586156G>A

Select item 148878407411.

rs1488784074 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:8584142 (GRCh38)
4:8585869 (GRCh37)
Canonical SPDI:: NC_000004.12:8584141:G:A
Gene:: GPR78 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.8584142G>A, NC_000004.11:g.8585869G>A

Select item 148876835512.

rs1488768355 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 4:8578644 (GRCh38)
4:8580371 (GRCh37)
Canonical SPDI:: NC_000004.12:8578643:GGGG:GGG
Gene:: GPR78 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: GGG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.8578647del, NC_000004.11:g.8580374del

Select item 148870784413.

rs1488707844 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 4:8586486 (GRCh38)
4:8588213 (GRCh37)
Canonical SPDI:: NC_000004.12:8586485:G:A,NC_000004.12:8586485:G:T
Gene:: GPR78 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.8586486G>A, NC_000004.12:g.8586486G>T, NC_000004.11:g.8588213G>A, NC_000004.11:g.8588213G>T

Select item 148860726814.

rs1488607268 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:8586528 (GRCh38)
4:8588255 (GRCh37)
Canonical SPDI:: NC_000004.12:8586527:G:C
Gene:: GPR78 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.8586528G>C, NC_000004.11:g.8588255G>C

Select item 148833108015.

rs1488331080 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:8585346 (GRCh38)
4:8587073 (GRCh37)
Canonical SPDI:: NC_000004.12:8585345:G:C
Gene:: GPR78 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.8585346G>C, NC_000004.11:g.8587073G>C

Select item 148804924216.

rs1488049242 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:8580984 (GRCh38)
4:8582711 (GRCh37)
Canonical SPDI:: NC_000004.12:8580983:T:C
Gene:: GPR78 (Varview)
Functional Consequence:: intron_variant,initiator_codon_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.0002/1 (ALFA)
C=0.0002/1 (Estonian)
HGVS:: NC_000004.12:g.8580984T>C, NC_000004.11:g.8582711T>C, NM_080819.5:c.2T>C, NM_080819.4:c.2T>C, NP_543009.2:p.Met1Thr

Select item 148771627217.

rs1487716272 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:8588812 (GRCh38)
4:8590539 (GRCh37)
Canonical SPDI:: NC_000004.12:8588811:C:T
Gene:: GPR78 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000054/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000029/4 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000004.12:g.8588812C>T, NC_000004.11:g.8590539C>T, NM_080819.5:c.*1449C>T, NM_080819.4:c.*1449C>T, NR_045511.3:n.2186C>T, NR_045511.2:n.2341C>T

Select item 148771102018.

rs1487711020 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 4:8581969 (GRCh38)
4:8583696 (GRCh37)
Canonical SPDI:: NC_000004.12:8581968:C:G,NC_000004.12:8581968:C:T
Gene:: GPR78 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000004.12:g.8581969C>G, NC_000004.12:g.8581969C>T, NC_000004.11:g.8583696C>G, NC_000004.11:g.8583696C>T

Select item 148763657219.

rs1487636572 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:8579555 (GRCh38)
4:8581282 (GRCh37)
Canonical SPDI:: NC_000004.12:8579554:A:C
Gene:: GPR78 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.8579555A>C, NC_000004.11:g.8581282A>C

Select item 148751037320.

rs1487510373 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:8582681 (GRCh38)
4:8584408 (GRCh37)
Canonical SPDI:: NC_000004.12:8582680:G:T
Gene:: GPR78 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.8582681G>T, NC_000004.11:g.8584408G>T

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