SNP Links for Gene (Select 203562) - SNP

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Select item 14910743961.

rs1491074396 has merged into rs55932537 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: X:103711491 (GRCh38)
X:102966419 (GRCh37)
Canonical SPDI:: NC_000023.11:103711483:AAAAAAAAAAAAAAAAA:AAAAAAA,NC_000023.11:103711483:AAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000023.11:103711483:AAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000023.11:103711483:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000023.11:103711483:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000023.11:103711483:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000023.11:103711483:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000023.11:103711483:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000023.11:103711483:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000023.11:103711483:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000023.11:103711483:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000023.11:103711483:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000023.11:103711483:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:103711483:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
Gene:: TMEM31 (Varview), GLRA4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAA=0./0 (ALFA)
-=0.000023/6 (TOPMED)
-=0.35/14 (GENOME_DK)
HGVS:: NC_000023.11:g.103711491_103711500del, NC_000023.11:g.103711493_103711500del, NC_000023.11:g.103711494_103711500del, NC_000023.11:g.103711495_103711500del, NC_000023.11:g.103711496_103711500del, NC_000023.11:g.103711497_103711500del, NC_000023.11:g.103711498_103711500del, NC_000023.11:g.103711499_103711500del, NC_000023.11:g.103711500del, NC_000023.11:g.103711500dup, NC_000023.11:g.103711499_103711500dup, NC_000023.11:g.103711498_103711500dup, NC_000023.11:g.103711495_103711500dup, NC_000023.11:g.103711494_103711500dup, NC_000023.10:g.102966419_102966428del, NC_000023.10:g.102966421_102966428del, NC_000023.10:g.102966422_102966428del, NC_000023.10:g.102966423_102966428del, NC_000023.10:g.102966424_102966428del, NC_000023.10:g.102966425_102966428del, NC_000023.10:g.102966426_102966428del, NC_000023.10:g.102966427_102966428del, NC_000023.10:g.102966428del, NC_000023.10:g.102966428dup, NC_000023.10:g.102966427_102966428dup, NC_000023.10:g.102966426_102966428dup, NC_000023.10:g.102966423_102966428dup, NC_000023.10:g.102966422_102966428dup, NG_021199.1:g.22132_22141del, NG_021199.1:g.22134_22141del, NG_021199.1:g.22135_22141del, NG_021199.1:g.22136_22141del, NG_021199.1:g.22137_22141del, NG_021199.1:g.22138_22141del, NG_021199.1:g.22139_22141del, NG_021199.1:g.22140_22141del, NG_021199.1:g.22141del, NG_021199.1:g.22141dup, NG_021199.1:g.22140_22141dup, NG_021199.1:g.22139_22141dup, NG_021199.1:g.22136_22141dup, NG_021199.1:g.22135_22141dup

Select item 14902075642.

rs1490207564 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:103714523 (GRCh38)
X:102969451 (GRCh37)
Canonical SPDI:: NC_000023.11:103714522:G:A
Gene:: TMEM31 (Varview), GLRA4 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.103714523G>A, NC_000023.10:g.102969451G>A, NG_021199.1:g.19102C>T

Select item 14902022563.

rs1490202256 has merged into rs1242188270 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT [Show Flanks]
Chromosome:: X:103713106 (GRCh38)
X:102968034 (GRCh37)
Canonical SPDI:: NC_000023.11:103713095:TTTTTTTTTTTT:TTTTTTTTTT,NC_000023.11:103713095:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000023.11:103713095:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000023.11:103713095:TTTTTTTTTTTT:TTTTTTTTTTTTTT
Gene:: TMEM31 (Varview), GLRA4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
-=0.000026/7 (TOPMED)
T=0.00009/1 (TOMMO)
HGVS:: NC_000023.11:g.103713106_103713107del, NC_000023.11:g.103713107del, NC_000023.11:g.103713107dup, NC_000023.11:g.103713106_103713107dup, NC_000023.10:g.102968034_102968035del, NC_000023.10:g.102968035del, NC_000023.10:g.102968035dup, NC_000023.10:g.102968034_102968035dup, NG_021199.1:g.20528_20529del, NG_021199.1:g.20529del, NG_021199.1:g.20529dup, NG_021199.1:g.20528_20529dup

Select item 14886665774.

rs1488666577 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:103713189 (GRCh38)
X:102968117 (GRCh37)
Canonical SPDI:: NC_000023.11:103713188:C:G
Gene:: TMEM31 (Varview), GLRA4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000023.11:g.103713189C>G, NC_000023.10:g.102968117C>G, NG_021199.1:g.20436G>C

Select item 14885446005.

rs1488544600 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: X:103713587 (GRCh38)
X:102968515 (GRCh37)
Canonical SPDI:: NC_000023.11:103713586:A:C,NC_000023.11:103713586:A:G
Gene:: TMEM31 (Varview), GLRA4 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000016/3 (GnomAD_exomes)
G=0.000045/1 (TOMMO)
HGVS:: NC_000023.11:g.103713587A>C, NC_000023.11:g.103713587A>G, NC_000023.10:g.102968515A>C, NC_000023.10:g.102968515A>G, NG_021199.1:g.20038T>G, NG_021199.1:g.20038T>C, NM_001024452.2:c.1016T>G, NM_001024452.2:c.1016T>C, NR_164162.1:n.1308T>G, NR_164162.1:n.1308T>C

Select item 14885372076.

rs1488537207 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: X:103709784 (GRCh38)
X:102964712 (GRCh37)
Canonical SPDI:: NC_000023.11:103709783:T:
Gene:: TMEM31 (Varview), GLRA4 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: -=0.00008/3 (GnomAD)
HGVS:: NC_000023.11:g.103709784del, NC_000023.10:g.102964712del, NG_021199.1:g.23841del

Select item 14884761517.

rs1488476151 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:103712727 (GRCh38)
X:102967655 (GRCh37)
Canonical SPDI:: NC_000023.11:103712726:C:T
Gene:: TMEM31 (Varview), GLRA4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000023.11:g.103712727C>T, NC_000023.10:g.102967655C>T, NG_021199.1:g.20898G>A

Select item 14880198758.

rs1488019875 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:103714001 (GRCh38)
X:102968929 (GRCh37)
Canonical SPDI:: NC_000023.11:103714000:C:T
Gene:: TMEM31 (Varview), GLRA4 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: T=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.103714001C>T, NC_000023.10:g.102968929C>T, NG_021199.1:g.19624G>A, NM_182541.2:c.*3C>T

Select item 14874927719.

rs1487492771 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: X:103714495 (GRCh38)
X:102969423 (GRCh37)
Canonical SPDI:: NC_000023.11:103714494:T:A
Gene:: TMEM31 (Varview), GLRA4 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.103714495T>A, NC_000023.10:g.102969423T>A, NG_021199.1:g.19130A>T

Select item 148675900510.

rs1486759005 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:103709530 (GRCh38)
X:102964458 (GRCh37)
Canonical SPDI:: NC_000023.11:103709529:T:C
Gene:: TMEM31 (Varview), GLRA4 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000023.11:g.103709530T>C, NC_000023.10:g.102964458T>C, NG_021199.1:g.24095A>G

Select item 148669114911.

rs1486691149 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:103710065 (GRCh38)
X:102964993 (GRCh37)
Canonical SPDI:: NC_000023.11:103710064:G:A
Gene:: TMEM31 (Varview), GLRA4 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.103710065G>A, NC_000023.10:g.102964993G>A, NG_021199.1:g.23560C>T

Select item 148580305912.

rs1485803059 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: X:103713905 (GRCh38)
X:102968833 (GRCh37)
Canonical SPDI:: NC_000023.11:103713904:T:A
Gene:: TMEM31 (Varview), GLRA4 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.103713905T>A, NC_000023.10:g.102968833T>A, NG_021199.1:g.19720A>T, NM_182541.2:c.414T>A, NP_872347.2:p.Phe138Leu

Select item 148517648913.

rs1485176489 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:103710338 (GRCh38)
X:102965266 (GRCh37)
Canonical SPDI:: NC_000023.11:103710337:G:A
Gene:: TMEM31 (Varview), GLRA4 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00003/8 (TOPMED)
HGVS:: NC_000023.11:g.103710338G>A, NC_000023.10:g.102965266G>A, NG_021199.1:g.23287C>T

Select item 148388714514.

rs1483887145 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:103712899 (GRCh38)
X:102967827 (GRCh37)
Canonical SPDI:: NC_000023.11:103712898:G:C
Gene:: TMEM31 (Varview), GLRA4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000019/2 (GnomAD)
C=0.000019/5 (TOPMED)
HGVS:: NC_000023.11:g.103712899G>C, NC_000023.10:g.102967827G>C, NG_021199.1:g.20726C>G

Select item 148265483415.

rs1482654834 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: X:103711463 (GRCh38)
X:102966391 (GRCh37)
Canonical SPDI:: NC_000023.11:103711462:G:A,NC_000023.11:103711462:G:C
Gene:: TMEM31 (Varview), GLRA4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.00036/5 (TOMMO)
HGVS:: NC_000023.11:g.103711463G>A, NC_000023.11:g.103711463G>C, NC_000023.10:g.102966391G>A, NC_000023.10:g.102966391G>C, NG_021199.1:g.22162C>T, NG_021199.1:g.22162C>G

Select item 148243187516.

rs1482431875 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:103709724 (GRCh38)
X:102964652 (GRCh37)
Canonical SPDI:: NC_000023.11:103709723:C:T
Gene:: TMEM31 (Varview), GLRA4 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.103709724C>T, NC_000023.10:g.102964652C>T, NG_021199.1:g.23901G>A

Select item 148031905417.

rs1480319054 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: X:103709793 (GRCh38)
X:102964721 (GRCh37)
Canonical SPDI:: NC_000023.11:103709792:G:A,NC_000023.11:103709792:G:T
Gene:: TMEM31 (Varview), GLRA4 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.103709793G>A, NC_000023.11:g.103709793G>T, NC_000023.10:g.102964721G>A, NC_000023.10:g.102964721G>T, NG_021199.1:g.23832C>T, NG_021199.1:g.23832C>A

Select item 148025515318.

rs1480255153 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:103713176 (GRCh38)
X:102968104 (GRCh37)
Canonical SPDI:: NC_000023.11:103713175:C:T
Gene:: TMEM31 (Varview), GLRA4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000026/7 (TOPMED)
T=0.000029/3 (GnomAD)
T=0.000045/1 (TOMMO)
HGVS:: NC_000023.11:g.103713176C>T, NC_000023.10:g.102968104C>T, NG_021199.1:g.20449G>A

Select item 147969301519.

rs1479693015 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: X:103714350 (GRCh38)
X:102969278 (GRCh37)
Canonical SPDI:: NC_000023.11:103714349:A:T
Gene:: TMEM31 (Varview), GLRA4 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.103714350A>T, NC_000023.10:g.102969278A>T, NG_021199.1:g.19275T>A

Select item 147913857620.

rs1479138576 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:103709895 (GRCh38)
X:102964823 (GRCh37)
Canonical SPDI:: NC_000023.11:103709894:G:A
Gene:: TMEM31 (Varview), GLRA4 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.00179/8 (ALFA)
A=0.000058/6 (GnomAD)
HGVS:: NC_000023.11:g.103709895G>A, NC_000023.10:g.102964823G>A, NG_021199.1:g.23730C>T

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